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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. Date: 31-Jul 2016. Module: SNOMED CT core module

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 SNOMED CT core module
3303035013 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Hypogonadism true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Congenital muscular dystrophy false Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Reproductive system hereditary disorder true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Infantile cataract true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology Dystrophy false Inferred relationship Existential restriction modifier 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier 6
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Structure of lens of eye false Inferred relationship Existential restriction modifier 6
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Structure of lens of eye true Inferred relationship Existential restriction modifier 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology Dystrophy true Inferred relationship Existential restriction modifier 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Congenital hereditary muscular dystrophy true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Chronic disease of genitourinary system true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier 4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier 3
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology Abnormally opaque structure true Inferred relationship Existential restriction modifier 4
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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