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93466004: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (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
154722018 Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
154723011 Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
154724017 Perrault syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
837205013 Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance survenue (attribut) congénital true Inferred relationship Some 2
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 2
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) Mitochondrial cytopathy true Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 3
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) Congenital malformation syndrome (disorder) true Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) Multiple congenital malformations false Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance survenue (attribut) congénital true Inferred relationship Some 1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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