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81678004: syndroom van ringchromosoom 4 (aandoening)


Status: current, 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
135486015 Ring chromosome 4 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
822975019 Ring chromosome 4 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
10256951000146114 syndroom van ringchromosoom 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10256961000146112 syndroom van ringchromosoom 4 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10256971000146118 ringchromosoom 4-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4212338014 An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. en Definition 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
Ring chromosome 4 syndrome Is a Anomaly of chromosome pair 4 true Inferred relationship Some
Ring chromosome 4 syndrome Is a chromosoom vervangen door ringchromosoom of dicentrisch chromosoom false Inferred relationship Some
Ring chromosome 4 syndrome Finding site Chromosome pair 4 false Inferred relationship Some 1
Ring chromosome 4 syndrome Associated morphology Ring chromosome false Inferred relationship Some 2
Ring chromosome 4 syndrome Finding site Sex chromosome false Inferred relationship Some
Ring chromosome 4 syndrome Occurrence Congenital false Inferred relationship Some
Ring chromosome 4 syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
Ring chromosome 4 syndrome Finding site Chromosome pair 4 false Inferred relationship Some 1
Ring chromosome 4 syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
Ring chromosome 4 syndrome Occurrence Congenital true Inferred relationship Some 1
Ring chromosome 4 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Ring chromosome 4 syndrome Finding site Chromosome pair 4 true Inferred relationship Some 1
Ring chromosome 4 syndrome Is a Ring chromosome true Inferred relationship Some
Ring chromosome 4 syndrome Associated morphology Ring chromosome true Inferred relationship Some 1
Ring chromosome 4 syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Ring chromosome 4 syndrome 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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