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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) Is a Hypogonadism true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a Congenital muscular dystrophy false Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a Infantile cataract (disorder) true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Associated morphology Dystrophy false Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Finding site Skeletal muscle structure false Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Finding site Skeletal muscle structure false Inferred relationship Some 5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 6
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Finding site Lens clear false Inferred relationship Some 6
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Finding site Lens clear true Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 1
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) Occurrence Congenital true Inferred relationship Some 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a Congenital hereditary muscular dystrophy true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a Chronic disease of genitourinary system true Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Occurrence Infancy true Inferred relationship Some 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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