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230557001: Hereditary dysautonomia with motor neuropathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
345467012 Hereditary dysautonomia with motor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555126013 Lisker Garcia Ramos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4555127016 Peripheral motor neuropathy dysautonomia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
618383012 Hereditary dysautonomia with motor neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555130011 Syndrome with characteristics of distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4555131010 Syndrome with characteristics of distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterised by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and oesophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary dysautonomia with motor neuropathy localisation d'une constatation (attribut) nerf périphérique (structure corporelle) true Inferred relationship Some 2
Hereditary dysautonomia with motor neuropathy est un(e) (attribut) atteinte d'un nerf périphérique true Inferred relationship Some
Hereditary dysautonomia with motor neuropathy est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hereditary dysautonomia with motor neuropathy est un(e) (attribut) neuropathie autonome true Inferred relationship Some
Hereditary dysautonomia with motor neuropathy localisation d'une constatation (attribut) Autonomic nerve structure true Inferred relationship Some 1
Hereditary dysautonomia with motor neuropathy localisation d'une constatation (attribut) structure d'un nerf false Inferred relationship Some 1
Hereditary dysautonomia with motor neuropathy localisation d'une constatation (attribut) Autonomic nervous system structure false Inferred relationship Some 3
Hereditary dysautonomia with motor neuropathy localisation d'une constatation (attribut) structure du système nerveux périphérique false Inferred relationship Some 2
Hereditary dysautonomia with motor neuropathy est un(e) (attribut) neuropathie héréditaire sensitive et autonomique true Inferred relationship Some
Hereditary dysautonomia with motor neuropathy localisation d'une constatation (attribut) Autonomic nerve structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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