722997000: Inherited autonomic nervous system disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of autonomic nervous system\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:

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	Some
Inherited autonomic nervous system disorder (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Inherited autonomic nervous system disorder (disorder)	Finding site	Autonomic nervous system structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial visceral neuropathy	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
Cold-induced sweating syndrome (disorder)	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
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	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out.	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
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	Some
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
An autosomal dominant disorder due to a sodium channelopathy and characterized by skin flushing and severe pain. Attacks can start in infancy where the pain is typically concentrated in the lower part of the body, with progression of age the location of pain may change to affect the head and face.	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
Total intestinal aganglionosis	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
Hereditary autonomic neuropathy (disorder)	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.	Is a	True	Inherited autonomic nervous system disorder (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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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
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