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722997000: Inherited autonomic nervous system disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3334113011 Inherited autonomic nervous system disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334114017 Inherited autonomic nervous system disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334113011 Inherited autonomic nervous system disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3334113011 Inherited autonomic nervous system disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334114017 Inherited autonomic nervous system disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3334114017 Inherited autonomic nervous system disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6315971000241119 affection héréditaire du système nerveux végétatif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6315981000241117 affection héréditaire du système nerveux autonome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6315991000241115 affection héréditaire du SNA (système nerveux autonome) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6315971000241119 affection héréditaire du système nerveux végétatif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6315981000241117 affection héréditaire du système nerveux autonome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6315991000241115 affection héréditaire du SNA (système nerveux autonome) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

43 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited autonomic nervous system disorder (disorder) Is a Disorder of autonomic nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited autonomic nervous system disorder (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited autonomic nervous system disorder (disorder) Finding site Autonomic nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial visceral neuropathy Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cold-induced sweating syndrome (disorder) Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder) Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital Horner syndrome Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paroxysmal extreme pain disorder Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Total intestinal aganglionosis (disorder) Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary autonomic neuropathy (disorder) Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis and vocal cord paralysis syndrome (disorder) Is a True Inherited autonomic nervous system disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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