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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


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 Congenital anomaly 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 Developmental anomaly 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 Developmental anomaly 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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