Dysautonomia-like disorder

Preferred Label : Dysautonomia-like disorder;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Schmidt et al. (1970) concluded that the disorder they observed in 2 daughters of a Sephardic uncle-niece marriage was a disorder distinct from familial dysautonomia, which, of course, occurs mainly in Ashkenazim. In these patients mental retardation and normal taste, fungiform papillae, histamine test, and urinary VMA excretion differentiate the condition. See neuropathy, congenital sensory, with anhidrosis (256800), another dysautonomia-like condition. *FIELD* RF 1. Schmidt, R.; Alkan, W. J.; Moses, S. W.; Mundel, G.; Roizen, S. : A clinical entity simulating familial dysautonomia in a North African Jewish family. J. Pediat. 76: 283-288, 1970. *FIELD* CS Neuro: Autonomic neuropathy; Mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 224000;

Details

Origin ID

224000;

UMLS CUI

C1857153;

Automatic exact mappings (from CISMeF team)
- Dysautonomia [NCIt concept]
- Dysautonomia [MedDRA LLT]
- disorder of autonomic nervous system, nos [SNOMED Notion]
- obsolete Dysautonomia [HPO term]
- primary dysautonomias [MeSH Descriptor]
Currated CISMeF NLP mapping
- dysautonomia like disorder [MeSH concept]
- dysautonomia like disorder [MeSH Supplementary Concept]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Intellectual disability [HPO term]
- Peripheral neuropathy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- dysautonomia like disorder [MeSH Supplementary Concept]
- dysautonomia like disorder [MeSH concept]

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