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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
1456561000005117 Muskel-øjen-hjerne-sygdom, kongenit muskeldystrofi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


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 kongenit anomali 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 dysgenese 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 dysgenese 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 false Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology Morphologically abnormal structure 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 true Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Clinical course Progressive 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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