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47535005: Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (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
79242013 CHARGE association en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1230481016 Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2620800011 Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2913787017 Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914551016 Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2503101000052110 CHARGE-syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Is a Multisystem disorder C-D (navigational concept) false Inferred relationship Some
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Is a missbildningsassociation false Inferred relationship Some
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Occurrence Congenital false Inferred relationship Some
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Is a multisystemsjukdom false Inferred relationship Some
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Associated morphology medfödd missbildning false Inferred relationship Some
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Occurrence Congenital true Inferred relationship Some 1
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 1
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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