dysautonomia, familial

Preferred Label : dysautonomia, familial;

MeSH definition : An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4);

MeSH synonym : hereditary sensory and autonomic neuropathy 3; type 3 hereditary sensory neuropathy, dominant; dominant hereditary sensory neuropathy, type iii; riley day syndrome; type iii hereditary sensory neuropathy, dominant; riley-day syndrome; hereditary-sensory and autonomic neuropathy type iii; familial dysautonomia; hereditary sensory neuropathy, dominant, type 3; hereditary sensory neuropathy, dominant, type iii; hereditary sensory neuropathy, type 3, dominant; hereditary sensory and autonomic neuropathy type III; hsan (hereditary sensory and autonomic neuropathy) type iii; HSAN 3; hsan type iii; neuropathy, hereditary and autonomic, type iii; hereditary sensory neuropathy type 3; HSAN III; neuropathy, hereditary sensory and autonomic, type iii; HSAN3; HSN-III;

CISMeF synonym : syndrome, riley-day; HSAN type IIIs;

MeSH annotation : PRIMARY DYSAUTONOMIAS is also available;

Wikipedia link : https://en.wikipedia.org/wiki/Dysautonomia, familial;

Details

Origin ID

D004402;

UMLS CUI

C0013364;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Neuropathy, hereditary sensory and autonomic, type V [OMIM Phenotype]
- dominant hereditary sensory neuropathy, type i [SNOMED Notion]
- dominant hereditary sensory neuropathy, type ii [SNOMED Notion]
Currated CISMeF NLP mapping
- Familial Dysautonomia [NCIt concept]
- Familial dysautonomia [PASCAL descriptor]
- Familial dysautonomia [ORDO Disease]
- Familial dysautonomia [MedDRA LLT]
- Familial dysautonomia (disorder) [SNOMED CT concept]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category (who)]
- Hereditary sensory and autonomic neuropathy type III [ICD-11 Subcategory]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- Riley-Day syndrome [DO Concept]
- Riley-Day syndrome [MedDRA Preferred Term]
- familial dysautonomia [Disease (Nov.)]
- familial dysautonomia [SNOMED Notion]
- familial dysautonomia [Radlex concept]
DO Cross reference
- Riley-Day syndrome [DO Concept]
Indexing information
- Elp1 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Autosomal recessive hereditary sensory and autonomic neuropathy [ORDO Disease]
- Congenital alacrima [ORDO Disease]
- Genetic dermis disorder [ORDO Disease]
- Nervous system anomaly with eye involvement [ORDO Disease]
- Other dermis disorder [ORDO Disease]
- Primary orthostatic hypotension [ORDO Disease]
ORDO relation(s)
- Familial dysautonomia [ORDO Disease]
Record concept(s)
- dysautonomia, familial [MeSH concept]
Related MeSH Supplementary Concept(s)
- neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Dysautonomia [NCIt concept]
- Familial dysautonomia [ORDO Disease]
- Familial dysautonomia [PASCAL descriptor]
- Familial dysautonomia [MedDRA LLT]
- Familial dysautonomia (disorder) [SNOMED CT concept]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
- Hereditary sensory and autonomic neuropathy type III [ICD-11 Subcategory]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- Riley-Day syndrome [MedDRA Preferred Term]
- Riley-Day syndrome [DO Concept]
- familial dysautonomia [Radlex concept]
- familial dysautonomia [SNOMED Notion]
- familial dysautonomia [Disease (Nov.)]

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