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111505001: Muscle-eye-brain disease, congenital muscular dystrophy (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
178747011 Muscle-eye-brain disease, congenital muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
632260014 Muscle-eye-brain disease, congenital muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1219661011 Cerebro-oculo-dysgenesis-muscular dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1219662016 COD-MD - Cerebro-oculo-dysgenesis-muscular dystrophy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4751311000241114 syndrome muscle, œil et cerveau avec dystrophie musculaire congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Muscle-eye-brain disease, congenital muscular dystrophy Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Is a Hereditary disorder of nervous system true Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Is a Combined malformation of central nervous system and skeletal muscle (disorder) true Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Is a Congenital hereditary muscular dystrophy true Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Occurrence Congenital false Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology anomalie congénitale false Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology Dystrophy false Inferred relationship Some 2
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Muscle-eye-brain disease, congenital muscular dystrophy Occurrence Congenital true Inferred relationship Some 3
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology anomalie du développement false Inferred relationship Some 3
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 3
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Structure of central nervous system (body structure) true Inferred relationship Some 3
Muscle-eye-brain disease, congenital muscular dystrophy Occurrence Congenital false Inferred relationship Some 4
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology anomalie du développement false Inferred relationship Some 4
Muscle-eye-brain disease, congenital muscular dystrophy Finding site Structure of central nervous system (body structure) false Inferred relationship Some 4
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Muscle-eye-brain disease, congenital muscular dystrophy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Muscle-eye-brain disease, congenital muscular dystrophy Occurrence Congenital true Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology Dystrophy true Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Is a Chronic nervous system disorder (disorder) true Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Clinical course Progressive (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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