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N syndrome
ICD-10 Codes
Description
Based on the search results, it appears that there are multiple conditions referred to as "N syndrome" or related terms such as "nephrotic syndrome". I will provide a description of nephrotic syndrome, which seems to be one of the possible matches.
What is Nephrotic Syndrome?
Nephrotic syndrome is a kidney disorder that causes your body to pass too much protein in your urine. This condition can lead to a range of problems, including:
- Proteinuria: Excessive loss of protein in the urine, which can cause swelling and fluid buildup in the body.
- Hypoalbuminemia: Low levels of albumin (a type of protein) in the blood, which can lead to edema (swelling).
- Edema: Swelling in various parts of the body, including the face, hands, feet, and abdomen.
Causes and Symptoms
The causes of nephrotic syndrome include kidney diseases, medications, and other underlying conditions. The symptoms may include:
- Excessive proteinuria
- Hypoalbuminemia
- Edema
- Fatigue
- Weight loss
Treatment and Management
Nephrotic syndrome can be treated with medications that address the underlying causes of the condition. Treatment options may include corticosteroids, immunosuppressive agents, and other medications to manage symptoms.
References:
- [3] Nephrotic syndrome is a group of symptoms that show that your kidneys are not working as well as they should.
- [5] Nephrotic syndrome is kidney disease with proteinuria, hypoalbuminemia, and edema. Nephrotic-range proteinuria is 3 grams per day or more.
- [9] Nephrotic syndrome is a condition that causes the kidneys to leak large amounts of protein into the urine. This can lead to a range of problems.
Note: The above description is based on nephrotic syndrome, which seems to be one of the possible matches for "N syndrome". If you meant something else, please let me know and I'll do my best to provide a more accurate answer.
Additional Characteristics
- A kidney disorder that causes excessive protein loss in urine.
- Excessive loss of protein in the urine, leading to swelling and fluid buildup.
- Low levels of albumin in the blood, causing edema (swelling).
- Swelling in various parts of the body, including face, hands, feet, and abdomen.
- Caused by kidney diseases, medications, or other underlying conditions.
- Symptoms include excessive proteinuria, hypoalbuminemia, edema, fatigue, and weight loss.
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of nephrotic syndrome:
Common Signs and Symptoms:
- Swelling in various parts of the body, including the face, hands, feet, lower abdomen, or other areas [3][5]
- High blood pressure [4]
- Weight gain due to fluid retention [8]
- Frothy urine [6]
- Blood in the urine (urine appears dark, tea-colored, or cloudy) [7]
Other Symptoms:
- Decreased urine output (little or no urine may be produced) [7]
- Generalized swelling of the body [6]
- Feeling dizzy [6]
- Low levels of albumin in the blood [2][6]
- High levels of protein in the urine [2][6]
Specific Symptoms in Children:
- Swelling around the eyes is a common sign of nephrotic syndrome in children, which may be greater in the morning and mild when not severe [5]
Additional Symptoms
- Blood in the urine
- Decreased urine output
- Swelling around the eyes
- Swelling in various parts of the body
- Weight gain due to fluid retention
- Frothy urine
- Generalized swelling of the body
- Feeling dizzy
- Low levels of albumin in the blood
- High levels of protein in the urine
- high blood pressure
Diagnostic Tests
Diagnostic Tests for Nephrotic Syndrome
Nephrotic syndrome can be diagnosed through various diagnostic tests, which help identify the underlying cause and monitor the progression of the disease.
- Urinalysis: This test examines the urine to detect the presence of protein, blood, or other abnormalities. A dipstick test is often used to quickly assess the urine for protein levels ([9]).
- Urine sediment examination: This test involves examining a sample of urine under a microscope to look for abnormal cells, casts, or other particles that may indicate kidney damage.
- Urinary protein measurement: This test measures the amount of protein present in the urine, which can help diagnose nephrotic syndrome ([2], [5]).
- Blood tests: Blood tests are used to measure various substances in the blood, such as serum albumin levels, which are often low in patients with nephrotic syndrome ([7]). Blood pressure checks and measurements of cholesterol and protein levels in the blood may also be performed.
- Medical history and physical examination: A healthcare professional will take a detailed medical history and perform a physical examination to assess overall health and identify any underlying conditions that may be contributing to nephrotic syndrome.
These diagnostic tests can help diagnose nephrotic syndrome, particularly when combined with a thorough medical history and physical examination ([3], [4]). Early diagnosis is essential for effective management and treatment of the disease.
References: [1] - Not applicable (no relevant information in search results) [2] Sep 26, 2023 — Diagnostic studies for nephrotic syndrome may include the following: Urinalysis. Urine sediment examination. Urinary protein measurement. [3] Your medical history, urine tests and blood tests are often enough to help them diagnose nephrotic syndrome as a result of your diabetes. [4] Your health care professional can diagnose nephrotic syndrome through urine tests. The urine tests show if you are losing too much protein in your urine. Tests ... [5] Dec 5, 2022 — How do doctors test for nephrotic syndrome? · Urine tests. Your urine test results can tell your doctor if there is protein in your urine. [6] Jun 12, 2023 — Nephrotic syndrome is diagnosed based upon a number of laboratory tests, including urine and blood tests. (See "Patient education: Kidney (renal) ... [7] by C Tapia · 2023 · Cited by 58 — Blood tests: The serum albumin level is classically low in nephrotic syndrome. [8] How is nephrotic syndrome diagnosed? · Blood pressure checks · Measurement of your cholesterol levels · Measurement of protein levels in your urine and in the ... [9] Nephrotic syndrome can usually be diagnosed after dipping a dipstick into a urine sample. If there are large amounts of protein in a person's urine, there will ...
Additional Diagnostic Tests
- Blood tests
- Urinalysis
- Urine sediment examination
- Urinary protein measurement
- Medical history and physical examination
Treatment
Treatment Options for N Syndrome
N Syndrome, also known as Neuroleptic Malignant Syndrome (NMS), is a rare and life-threatening condition that can occur in individuals taking antipsychotic medications. While there are no specific treatments for NMS, the goal of treatment is to manage symptoms and prevent complications.
- Stopping the offending medication: The first step in treating NMS is to immediately stop the antipsychotic medication that triggered the condition.
- Supportive care: Patients with NMS require supportive care, including:
- Fluid replacement: To prevent dehydration and maintain electrolyte balance.
- Cooling measures: To manage fever and prevent heat stroke.
- Restraint or sedation: To control muscle rigidity and agitation.
- Monitoring of vital signs: To track changes in heart rate, blood pressure, and respiratory status.
- Medications: In some cases, medications may be used to help manage symptoms. These can include:
- Benzodiazepines: To calm anxiety and agitation.
- Antipyretics: To reduce fever.
- Muscle relaxants: To control muscle rigidity.
Important Considerations
It's essential to seek medical attention immediately if you or someone you know is experiencing symptoms of NMS. Delayed treatment can lead to serious complications, including:
- Respiratory failure: Due to muscle rigidity and respiratory depression.
- Cardiac arrest: Caused by severe fever and electrolyte imbalances.
References
[4] Sudden symptoms such as muscle stiffness and unexplained fever are warning signs of NMS. If you notice these symptoms, get medical help right away because delays in treatment can lead to serious complications [4].
[5] In addition to supportive care, medications may be used to manage symptoms of NMS.
[9] Neuroleptic malignant syndrome (NMS) is a rare and life-threatening reaction to the use of almost any kind of neuroleptic (antipsychotic) medication.
Recommended Medications
- Muscle relaxants
- Antipyretics
- Benzodiazepines
- Stopping the offending medication
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnoses for Nephrotic Syndrome
Nephrotic syndrome (NS) is a kidney disorder characterized by heavy proteinuria, hypoalbuminemia, and edema. When diagnosing NS, it's essential to consider differential diagnoses that can mimic or coexist with the condition. Here are some key points to consider:
- Common Differential Diagnoses: The differential diagnosis for patients with nephrotic syndrome is generally the same as for those with nephrotic-range proteinuria. Common differentials include:
- Acute Kidney Injury (AKI)
- Acute Poststreptococcal Glomerulonephritis
- Angioedema
- Childhood Polyarteritis Nodosa [1]
- Other Conditions to Consider: In addition to the above, other conditions that can present with similar symptoms include:
- Fabry's disease
- Post-streptococcal glomerulonephritis
- Lupus nephritis
- Heroin use
- HIV infection
- Sickle cell disease
- Massive obesity
- Interferon treatment
- Congenital malformations (e.g., Charcot-Marie-Tooth disease) [7]
- Idiopathic Nephrotic Syndrome: In some cases, nephrotic syndrome can be idiopathic, meaning that the cause is unknown. However, it's essential to rule out other potential causes through a thorough medical evaluation.
References:
[1] C KODNER · 2016 · Cited by 159 — The diagnosis of NS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia. The patient history and ...
[7] Can be idiopathic · Heroin use · HIV infection · Sickle cell disease · Massive obesity · Interferon treatment · Congenital malformations (e.g., Charcot-Marie-Tooth ...
Additional Differential Diagnoses
- Acute Kidney Injury
- HIV infection
- Heroin use
- Interferon treatment
- Congenital malformations (e.g., Charcot-Marie-Tooth disease)
- disease
- lupus nephritis
- angioedema
- acute poststreptococcal glomerulonephritis
- obesity
- polyarteritis nodosa
- sickle cell disease
- Cornelia de Lange syndrome 2
- Meier-Gorlin syndrome 1
- Meier-Gorlin syndrome 3
- Meier-Gorlin syndrome 4
- Meier-Gorlin syndrome 5
- Meier-Gorlin syndrome 7
- galactosialidosis
- Noonan syndrome with multiple lentigines 2
- Noonan syndrome with multiple lentigines 3
- congenital disorder of glycosylation If
- congenital disorder of glycosylation In
- congenital disorder of glycosylation Ir
- congenital disorder of glycosylation It
- Van Maldergem syndrome 2
- Kleefstra syndrome
- peroxisome biogenesis disorder 2B
- syndromic microphthalmia
- spinal muscular atrophy type 0
- Stickler syndrome 2
- Stickler syndrome 1
- RASopathy
- Galloway-Mowat syndrome
- Opitz GBBB syndrome
- Teebi hypertelorism syndrome 1
- autosomal dominant congenital deafness with onychodystrophy
- Kenny-Caffey syndrome type 1
- Ehlers-Danlos syndrome arthrochalasia type 2
- Ehlers-Danlos syndrome classic-like 2
- Ehlers-Danlos syndrome musculocontractural type 2
- Ehlers-Danlos syndrome spondylodysplastic type 1
- Ehlers-Danlos syndrome spondylodysplastic type 3
- transverse myelitis
- keratosis follicularis spinulosa decalvans
- autosomal dominant keratosis follicularis spinulosa decalvans
- Fanconi renotubular syndrome 1
- Fanconi renotubular syndrome 2
- Fanconi renotubular syndrome 3
- Fanconi renotubular syndrome 4
- Fanconi renotubular syndrome 5
- complete androgen insensitivity syndrome
- Brown-Vialetto-Van Laere syndrome 1
- Brown-Vialetto-Van Laere syndrome 2
- Treacher Collins syndrome 1
- Treacher Collins syndrome 2
- Treacher Collins syndrome 3
- cranioectodermal dysplasia 2
- cranioectodermal dysplasia 3
- cranioectodermal dysplasia 4
- chronic asthma
- extrinsic asthma
- occupational asthma
- TORCH syndrome
- Bainbridge-Ropers syndrome
- rapidly involuting congenital hemangioma
- cerebrooculofacioskeletal syndrome 1
- cerebrooculofacioskeletal syndrome 4
- familial Behcet-like autoinflammatory syndrome
- alopecia-mental retardation syndrome 4
- alopecia-mental retardation syndrome 3
- X-linked mental retardation-hypotonic facies syndrome-1
- Ehlers-Danlos syndrome periodontal type 1
- Cowden syndrome 5
- Bardet-Biedl syndrome 20
- Bardet-Biedl syndrome 21
- Bardet-Biedl syndrome 22
- congenital fibrosis of the extraocular muscles 3C
- T-cell prolymphocytic leukemia
- frontonasal dysplasia 1
- obsolete diabetes
- Teebi hypertelorism syndrome 2
- Rafiq syndrome
- keratosis palmoplantaris striata 2
- Baraitser-Winter syndrome 2
- craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
- DeSanto-Shinawi syndrome
- mandibuloacral dysplasia
- mandibuloacral dysplasia type B lipodystrophy
- autosomal recessive intellectual developmental disorder 7
- autosomal recessive intellectual developmental disorder 39
- autosomal recessive intellectual developmental disorder 47
- autosomal recessive intellectual developmental disorder 68
- autoimmune interstitial lung, joint, and kidney disease
- intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
- graft-versus-host disease
- Sandestig-Stefanova syndrome
- neurodevelopmental disorder with eye movement abnormalities and ataxia
- oculopharyngodistal myopathy 1
- contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
- progeroid syndrome
- epidermolytic hyperkeratosis 1
- LADD syndrome
- organophosphate-induced delayed polyneuropathy
- agenesis of the corpus callosum with peripheral neuropathy
- Schwartz-Jampel syndrome 1
- immunodeficiency-centromeric instability-facial anomalies syndrome 1
- Silverman-Handmaker type dyssegmental dysplasia
- Fuhrmann syndrome
- RIDDLE syndrome
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- hereditary neutrophilia
- phenytoin allergy
- obsolete pestis minor
- obsolete West Nile virus neurological syndrome
- intestinal botulism
- autoimmune polyendocrine syndrome type 1
- obsolete polioencephalitis
- Lambert-Eaton myasthenic syndrome
- obsolete Bacillus cereus gastroenteritis
- obsolete tick paralysis
- foodborne botulism
- wound botulism
- mulibrey nanism
- Frasier syndrome
- mucosulfatidosis
- pachyonychia congenita
- Wolf-Hirschhorn syndrome
- campomelic dysplasia
- Muir-Torre syndrome
- Loeys-Dietz syndrome
- Donohue syndrome
- Alstrom syndrome
- bulbospinal polio
- obsolete acroosteolysis
- obsolete lentiginosis profusa
- obsolete SC phocomelia syndrome
- obsolete Verma-Naumoff syndrome
- Seckel syndrome
- Senior-Loken syndrome
- asphyxiating thoracic dystrophy
- pseudo-TORCH syndrome 1
- Bietti crystalline corneoretinal dystrophy
- Birk-Barel syndrome
- Birt-Hogg-Dube syndrome
- Blau syndrome
- brachydactyly-syndactyly syndrome
- Brown-Vialetto-Van Laere syndrome
- electroclinical syndrome
- T-cell large granular lymphocyte leukemia
- obsolete CLN3 disease
- Armfield syndrome
- rapadilino syndrome
- schneckenbecken dysplasia
- non-syndromic X-linked intellectual disability
- Ogden syndrome
- Zollinger-Ellison syndrome
- juvenile polyposis syndrome
- proximal symphalangism
- fibular hypoplasia and complex brachydactyly
- multiple synostoses syndrome
- achalasia microcephaly syndrome
- CHARGE syndrome
- Marshall-Smith syndrome
- Townes-Brocks syndrome
- syndromic intellectual disability
- myelodysplastic syndrome
- large intestine adenoma
- rectal adenoma
- spinocerebellar ataxia type 8
- nonprogressive cerebellar ataxia with mental retardation
- autoimmune disease of central nervous system
- autoimmune disease of endocrine system
- CD3delta deficiency
- autoimmune disease of exocrine system
- autoimmune disease of eyes, ear, nose and throat
- autoimmune disease of peripheral nervous system
- pervasive developmental disorder
- atypical autism
- autoimmune disease of urogenital tract
- simultanagnosia
- childhood spinal muscular atrophy
- amyotrophic lateral sclerosis type 3
- amyotrophic lateral sclerosis type 9
- amyotrophic lateral sclerosis type 13
- frontotemporal dementia and/or amyotrophic lateral sclerosis 6
- frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- Cogan syndrome
- Scheie syndrome
- 3MC syndrome
- branchiootic syndrome
- Carpenter syndrome
- Van Maldergem syndrome
- 3-M syndrome
- synpolydactyly
- dyschromatosis symmetrica hereditaria
- congenital ptosis
- Ohdo syndrome
- Ohdo syndrome, SBBYS variant
- Meier-Gorlin syndrome
- autosomal dominant intellectual developmental disorder
- syndromic X-linked intellectual disability
- transient neonatal diabetes mellitus
- CEDNIK syndrome
- ciliopathy
- Native American myopathy
- Kleefstra syndrome 1
- Stormorken syndrome
- Vici syndrome
- Hennekam syndrome
- orofaciodigital syndrome V
- orofaciodigital syndrome VIII
- acrofacial dysostosis, Catania type
- chondrodysplasia Blomstrand type
- chromosomal deletion syndrome
- chromosome 10q23 deletion syndrome
- chromosome 14q11-q22 deletion syndrome
- chromosome 15q11.2 deletion syndrome
- chromosome 15q25 deletion syndrome
- chromosome 16p12.1 deletion syndrome
- chromosome 1q21.1 deletion syndrome
- chromosome 22q11.2 deletion syndrome, distal
- chromosome 2p12-p11.2 deletion syndrome
- chromosome 8q21.11 deletion syndrome
- chromosomal duplication syndrome
- chromosome 17q21.31 duplication syndrome
- chromosome 22q11.2 microduplication syndrome
- chromosome Xp11.23-p11.22 duplication syndrome
- Desbuquois dysplasia
- gingival fibromatosis
- humeroradial synostosis
- Holt-Oram syndrome
- MEDNIK syndrome
- autoimmune neuropathy
- latex allergy
- Hermansky-Pudlak syndrome 1
- Hermansky-Pudlak syndrome 5
- Hermansky-Pudlak syndrome 6
- Hermansky-Pudlak syndrome 8
- Barber-Say syndrome
- ablepharon macrostomia syndrome
- lethal congenital contracture syndrome
- lethal congenital contracture syndrome 1
- lethal congenital contracture syndrome 2
- Char syndrome
- spinal disease
- Holzgreve-Wagner-Rehder Syndrome
- Ritscher-Schinzel syndrome 2
- Noonan syndrome 3
- Noonan syndrome 4
- Noonan syndrome 5
- Noonan syndrome 9
- Noonan syndrome 10
- Nance-Horan syndrome
- ulnar-mammary syndrome
- chondrodysplasia-pseudohermaphroditism syndrome
- MYH-9 related disease
- lethal congenital contracture syndrome 4
- pigment dispersion syndrome
- Brunner Syndrome
- Cayman type cerebellar ataxia
- Muenke Syndrome
- X-linked lymphoproliferative syndrome 1
- hand-foot-genital syndrome
- Pendred Syndrome
- Doyne honeycomb retinal dystrophy
- X-linked juvenile retinoschisis 1
- autosomal recessive Robinow syndrome
- autosomal dominant Robinow syndrome 2
- Smith-Magenis syndrome
- cleft lip-palate-ectodermal dysplasia syndrome
- syndromic X-linked intellectual disability 17
- syndromic X-linked intellectual disability 12
- syndromic X-linked intellectual disability 7
- syndromic X-linked intellectual disability type 10
- syndromic X-linked intellectual disability Shrimpton type
- Wilson-Turner syndrome
- Miles-Carpenter syndrome
- syndromic X-linked intellectual disability 34
- syndromic X-linked intellectual disability Chudley-Schwartz type
- syndromic X-linked intellectual disability 14
- syndromic X-linked intellectual disability 94
- syndromic X-linked intellectual disability Raymond type
- X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- Griscelli syndrome
- isolated microphthalmia 3
- developmental and epileptic encephalopathy 9
- Potocki-Lupski syndrome
- bullous congenital ichthyosiform erythroderma
- hypoparathyroidism-deafness-renal disease syndrome
- prune belly syndrome
- thrombosis
- proteosome-associated autoinflammatory syndrome
- proteosome-associated autoinflammatory syndrome 2
- proteasome-associated autoinflammatory syndrome 3
- Seckel syndrome 9
- Seckel syndrome 8
- Seckel syndrome 7
- Seckel syndrome 5
- Seckel syndrome 2
- autosomal dominant dyskeratosis congenita 1
- autosomal recessive dyskeratosis congenita 3
- autosomal recessive dyskeratosis congenita 5
- autosomal recessive dyskeratosis congenita 6
- X-linked dyskeratosis congenita
- autosomal dominant intellectual developmental disorder 4
- autosomal dominant intellectual developmental disorder 6
- autosomal dominant intellectual developmental disorder 7
- Coffin-Siris syndrome 1
- Coffin-Siris syndrome 2
- Coffin-Siris syndrome 3
- Coffin-Siris syndrome 4
- Schuurs-Hoeijmakers Syndrome
- autosomal dominant intellectual developmental disorder 19
- neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
- autosomal dominant intellectual developmental disorder 22
- Coffin-Siris syndrome 9
- Arboleda-Tham syndrome
- autosomal dominant intellectual developmental disorder 35
- autosomal dominant intellectual developmental disorder 44
- obsolete Kleefstra Syndrome
- oculocutaneous albinism type VII
- obsolete Noonan syndrome 1
- obsolete Noonan syndrome 2
- obsolete Noonan syndrome 3
- obsolete Noonan syndrome 4
- obsolete Noonan syndrome 7
- obsolete Noonan syndrome 8
- obsolete Noonan syndrome 9
- Meckel syndrome 3
- Meckel syndrome 4
- Meckel syndrome 6
- autosomal recessive cutis laxa type IIIB
- autosomal recessive cutis laxa type I
- autosomal recessive chronic granulomatous disease 2
- autosomal recessive chronic granulomatous disease 1
- autosomal recessive chronic granulomatous disease 4
- autosomal recessive chronic granulomatous disease 3
- X-linked chronic granulomatous disease
- familial partial lipodystrophy type 5
- progressive familial intrahepatic cholestasis 2
- progressive familial intrahepatic cholestasis 4
- benign recurrent intrahepatic cholestasis
- benign recurrent intrahepatic cholestasis 1
- Loeys-Dietz syndrome 3
- congenital disorder of glycosylation type IIi
- Lynch syndrome 1
- hereditary nonpolyposis colorectal cancer type 7
- mitochondrial DNA depletion syndrome 8b
- nevoid basal cell carcinoma syndrome 1
- nevoid basal cell carcinoma syndrome 2
- autosomal recessive chronic granulomatous disease 5
- developmental and epileptic encephalopathy 109
- developmental and epileptic encephalopathy 90
- developmental and epileptic encephalopathy 102
- brachycephaly, trichomegaly, and developmental delay
- Luo-Schoch-Yamamoto syndrome
- neurodevelopmental disorder with speech impairment and dysmorphic facies
- acrocardiofacial syndrome
- hyperphosphatasia with impaired intellectual development syndrome
- hyperphosphatasia with impaired intellectual development syndrome 1
- hyperphosphatasia with impaired intellectual development syndrome 3
- hyperphosphatasia with impaired intellectual development syndrome 4
- hyperphosphatasia with impaired intellectual development syndrome 6
- mitochondrial DNA depletion syndrome 16
- diphthamide deficiency syndrome 2
- neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- Watson syndrome
- chromosomal disease
- Jansen's metaphyseal chondrodysplasia
- otospondylomegaepiphyseal dysplasia, autosomal recessive
- spondyloepimetaphyseal dysplasia
- Stickler syndrome
- Albright's hereditary osteodystrophy
- achondrogenesis type II
- mucolipidosis II alpha/beta
- Neu-Laxova syndrome 2
- Neu-Laxova syndrome 1
- mosaic variegated aneuploidy syndrome 2
- PTEN hamartoma tumor syndrome
- congenital muscular dystrophy with cataracts and intellectual disability
- sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- autosomal dominant intellectual developmental disorder 46
- non-syndromic X-linked intellectual disability 106
- syndromic X-linked mental retardation 35
- erythrokeratodermia variabilis et progressiva 2
- erythrokeratodermia variabilis et progressiva 3
- erythrokeratodermia variabilis et progressiva 4
- Meckel syndrome 13
- Meier-Gorlin syndrome 8
- autosomal recessive congenital ichthyosis 13
- nephrotic syndrome type 14
- nephrotic syndrome type 16
- retinitis pigmentosa 81
- short-rib thoracic dysplasia 18 with polydactyly
- Coffin-Siris syndrome 6
- mixed sleep apnea
- X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
- blepharocheilodontic syndrome 2
- CLOVES syndrome
- Phelan-McDermid syndrome
- nephrotic syndrome type 8
- developmental and epileptic encephalopathy 32
- developmental and epileptic encephalopathy 11
- developmental and epileptic encephalopathy 44
- developmental and epileptic encephalopathy 40
- developmental and epileptic encephalopathy 14
- developmental and epileptic encephalopathy 41
- developmental and epileptic encephalopathy 29
- Down syndrome
- Marfan syndrome
- critical illness polyneuropathy
- hypokalemic periodic paralysis
- WAGR syndrome
- Argyll Robertson pupil
- Reye syndrome
- postsurgical hypothyroidism
- Pfeiffer syndrome
- Weaver syndrome
- Sotos syndrome
- Dubowitz syndrome
- cystic fibrosis
- nodular nonsuppurative panniculitis
- duodenum disease
- ophthalmoplegia
- mononeuritis of upper limb and mononeuritis multiplex
- nerve compression syndrome
- acute disseminated encephalomyelitis
- Behcet's syndrome arthropathy
- facial hemiatrophy
- mononeuritis
- secondary lacrimal atrophy
- impotence
- heel spur
- obsolete short rib-polydactyly syndrome
- obsolete enterovirus meningitis
- Crouzon syndrome
- Landau-Kleffner syndrome
- tactile epilepsy
- obsolete drug-induced delirium
- Gilbert syndrome
- Klippel-Trenaunay syndrome
- Chediak-Higashi syndrome
- early myoclonic encephalopathy
- chronic obstructive pulmonary disease
- lymphangioleiomyomatosis
- hyperglobulinemic purpura
- Papillon-Lefevre disease
- alpha-mannosidosis
- inclusion body myositis
- Turner syndrome
- gynatresia
- radiculopathy
- polyradiculoneuropathy
- cystoid macular edema
- familial meningioma
- obsolete enchondromatosis
- brain edema
- acute hemorrhagic encephalitis
- internuclear ophthalmoplegia
- jaw-winking syndrome
- median neuropathy
- selective IgE deficiency disease
- Cronkhite-Canada syndrome
- obsolete transient organic mental disorder
- acne
- Barre-Lieou syndrome
- lichen nitidus
- mycosis fungoides
- genital herpes
- submandibular gland cancer
- carotid artery dissection
- non-syndromic X-linked intellectual developmental disorder 111
- Ullrich congenital muscular dystrophy 1B
- Ullrich congenital muscular dystrophy 1A
- Loeys-Dietz syndrome 6
- dystonia 22, juvenile-onset
- Schinzel Giedion syndrome
- polyhydramnios, megalencephaly, and symptomatic epilepsy
- neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
- peeling skin syndrome 2
- neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
- syndromic X-linked intellectual developmental disorder bain type
- Halperin-Birk syndrome
- neurodevelopmental disorder with spastic paraplegia and microcephaly
- neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
- microcephaly-micromelia syndrome
- Nicolaides-Baraitser syndrome
- blepharophimosis-impaired intellectual development syndrome
- Donnai-Barrow syndrome
- 3-methylglutaconic aciduria type 3
- 3-methylglutaconic aciduria type 4
- age related macular degeneration 11
- alpha thalassemia-X-linked intellectual disability syndrome
- X-linked Alport syndrome
- Dyggve-Melchior-Clausen disease
- microcephaly
- botulism
- acrocephalosyndactylia
- autoimmune polyendocrine syndrome
- intrahepatic cholestasis
- dysostosis
- ectodermal dysplasia
- chondrodysplasia punctata
- acrodermatitis
- food allergy
- chronic granulomatous disease
- Noonan syndrome
- Lynch syndrome
- poliomyelitis
- eye disease
- Alzheimer's disease 19
- asphyxiating thoracic dystrophy 3
- short-rib thoracic dysplasia 13 with or without polydactyly
- short-rib thoracic dysplasia 11 with or without polydactyly
- Bardet-Biedl syndrome 1
- Bardet-Biedl syndrome 8
- Bardet-Biedl syndrome 10
- Bardet-Biedl syndrome 12
- Bardet-Biedl syndrome 13
- Bardet-Biedl syndrome 16
- Bardet-Biedl syndrome 18
- Bardet-Biedl syndrome 19
- Bartter disease type 1
- Bartter disease type 2
- Bartter disease type 3
- Bartter disease type 4b
- Bartter disease type 5
- Charcot-Marie-Tooth disease type 2Y
- Leber congenital amaurosis 14
- Leber congenital amaurosis 6
- Leber congenital amaurosis 4
- osteogenesis imperfecta type 9
- retinitis pigmentosa 26
- retinitis pigmentosa 17
- retinitis pigmentosa 11
- autosomal recessive nonsyndromic deafness 6
- primary ciliary dyskinesia 29
- primary ciliary dyskinesia 18
- primary ciliary dyskinesia 8
- primary ciliary dyskinesia 15
- hypotrichosis 6
- hypotrichosis 8
- hypotrichosis 10
- congenital hypotrichosis with juvenile macular dystrophy
- Usher syndrome type 1G
- Usher syndrome type 2D
- familial hemophagocytic lymphohistiocytosis 3
- Waardenburg syndrome type 1
- Waardenburg syndrome type 3
- Waardenburg syndrome type 2C
- Waardenburg syndrome type 4A
- Waardenburg syndrome type 4B
- brachydactyly-preaxial hallux varus syndrome
- Joubert syndrome 16
- Joubert syndrome 2
- Joubert syndrome 28
- Joubert syndrome 4
- Joubert syndrome 5
- Joubert syndrome 7
- platelet-type bleeding disorder 18
- Scott syndrome
- Fanconi anemia complementation group G
- Fanconi anemia complementation group D1
- Fanconi anemia complementation group P
- Fanconi anemia complementation group Q
- Crouzon syndrome-acanthosis nigricans syndrome
- erythrokeratodermia variabilis et progressiva 1
- cerebrocostomandibular syndrome
- McKusick-Kaufman syndrome
- Oliver-McFarlane syndrome
- Vohwinkel syndrome
- dominant optic atrophy plus syndrome
- Floating-Harbor syndrome
- mucopolysaccharidosis Ih
- mucopolysaccharidosis type IVB
- Fraser syndrome 1
- Fraser syndrome 3
- Fraser syndrome 2
- progressive myoclonus epilepsy 9
- SHORT syndrome
- STING-associated vasculopathy with onset in infancy
- gnathodiaphyseal dysplasia
- juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
- Guttmacher syndrome
- familial male-limited precocious puberty
- aplasia of lacrimal and salivary glands
- spondyloepiphyseal dysplasia Maroteaux type
- Sturge-Weber syndrome
- autosomal recessive Whistling face syndrome
- DOORS syndrome
- Kohlschutter-Tonz syndrome
- neurooculocardiogenitourinary syndrome
- familial benign fleck retina
- familial hypertryptophanemia
- oculoectodermal syndrome
- Mulchandani-Bhoj-Conlin syndrome
- 46,XY sex reversal 4
- Waisman syndrome
- frontometaphyseal dysplasia
- syndromic microphthalmia 10
- syndactyly type 3
- ichthyosis follicularis-alopecia-photophobia syndrome 1
- autosomal dominant Aarskog syndrome
- Shukla-Vernon syndrome
- Keipert syndrome
- MEND syndrome
- Sabinas brittle hair syndrome
- non-syndromic X-linked intellectual disability 73
- non-syndromic X-linked intellectual disability 104
- non-syndromic X-linked intellectual disability 19
- non-syndromic X-linked intellectual disability 21
- female-restricted syndromic X-linked intellectual disability 99
- non-syndromic X-linked intellectual disability 99
- non-syndromic X-linked intellectual disability 89
- non-syndromic X-linked intellectual disability 81
- non-syndromic X-linked intellectual disability 96
- non-syndromic X-linked intellectual disability 100
- non-syndromic X-linked intellectual disability 91
- non-syndromic X-linked intellectual disability 93
- non-syndromic X-linked intellectual disability 97
- non-syndromic X-linked intellectual disability 53
- non-syndromic X-linked intellectual disability 101
- non-syndromic X-linked intellectual disability 88
- nuclear type mitochondrial complex I deficiency 4
- autosomal dominant nonsyndromic deafness 76
- Noonan syndrome 12
- thyroid dyshormonogenesis 2A
- developmental and epileptic encephalopathy 68
- Leber congenital amaurosis with early-onset deafness
- congenital symmetric circumferential skin creases 1
- congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- Leydig cell hypoplasia
- spondyloepiphyseal dysplasia Nishimura type
- spondyloepiphyseal dysplasia tarda with characteristic facies
- spondylometaphyseal dysplasia
- axial spondylometaphyseal dysplasia
- Fanconi syndrome
- alpha thalassemia
- Noonan syndrome with multiple lentigines
- Leber congenital amaurosis
- motor neuron disease
- neurofibromatosis
- compensatory emphysema
- obsolete Mumps virus polyneuritis
- blepharophimosis
- acute pericementitis
- patellar tendinitis
- Refsum disease
- obsolete steatorrhea
- cystinosis
- chronic maxillary sinusitis
- salivary gland disease
- obsolete poliovirus type II nonparalytic poliomyelitis
- respiratory failure
- esophageal varix
- obsolete disseminated scars of retina
- arteriovenous malformation
- obsolete calculus of gallbladder and bile duct with acute cholecystitis
- pseudotumor cerebri
- polydactyly
- fissured tongue
- abnormal pupillary function
- neurocirculatory asthenia
- Patau syndrome
- hyperlipoproteinemia type V
- obsolete visual cortex disorder due to vascular disorder
- obsolete intermittent monocular exotropia
- pseudoretinitis pigmentosa
- radial nerve lesion
- coloboma
- lateral displacement of eye
- Bell's palsy
- velocardiofacial syndrome
- locked-in syndrome
- Poland syndrome
- leukostasis
- Sneddon syndrome
- paronychia
- porphyria
- Proteus syndrome
- cholestasis
- obsolete acute schizophrenic episode subchronic state
- polyneuropathy in collagen vascular disease
- facial paralysis
- cleidocranial dysplasia
- POEMS syndrome
- De Quervain disease
- obsolete congenital adhesion of tongue
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- oboInOwl#creation_date
- 2013-02-21T11:32:26Z
- oboInOwl#id
- DOID:0050769
- core#notation
- DOID:0050769
- oboInOwl#hasDbXref
- ORDO:2608
- IAO_0000115
- A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
- rdf-schema#label
- N syndrome
- oboInOwl#hasExactSynonym
- NSX
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_225
- relatedICD
- http://example.org/icd10/Q90
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_805
- owl#annotatedSource
- t332155
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.