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733071009: Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498675015 Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498676019 Deafness, small bowel diverticulosis, neuropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498677011 Groll Hirschowitz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499959013 Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait. 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
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Peripheral sensory neuropathy (disorder) true Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) affection de l'oreille true Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Hereditary sensory neuropathy true Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Sensorineural hearing loss false Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Disorder of gastrointestinal tract (disorder) true Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) atteinte d'un nerf périphérique false Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 7
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) localisation d'une constatation (attribut) structure du tractus gastro-intestinal true Inferred relationship Some 7
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) localisation d'une constatation (attribut) oreille true Inferred relationship Some 5
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) localisation d'une constatation (attribut) nerf périphérique (structure corporelle) true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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