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715429006: Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302588018 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303035013 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302594014 This syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302595010 This syndrome is characterised by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission 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
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) Congenital hereditary muscular dystrophy true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) maladie chronique de l'appareil génito-urinaire true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) survenue (attribut) Infancy (qualifier value) true Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) morphologie associée (attribut) opacité true Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) hypogonadisme true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) Congenital muscular dystrophy false Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) Infantile cataract (disorder) true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure false Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some 5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) morphologie associée (attribut) Cataract false Inferred relationship Some 6
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 6
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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