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31325007: Ring chromosome 21 syndrome (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
52387014 Ring chromosome 21 syndrome en Synonym Active Case insensitive SNOMED CT core
762434019 Ring chromosome 21 syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4212344013 An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. en Definition Active Case sensitive SNOMED CT core
4212345014 An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ring chromosome 21 syndrome Is a Ring chromosome true Inferred relationship Some
Ring chromosome 21 syndrome Associated morphology Ring chromosome true Inferred relationship Some 1
Ring chromosome 21 syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Ring chromosome 21 syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Ring chromosome 21 syndrome Is a Chromosome replaced with ring or dicentric false Inferred relationship Some
Ring chromosome 21 syndrome Is a Anomaly of chromosome pair 21 true Inferred relationship Some
Ring chromosome 21 syndrome Associated morphology Congenital anomaly false Inferred relationship Some 1
Ring chromosome 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Some 1
Ring chromosome 21 syndrome Associated morphology Congenital anomaly false Inferred relationship Some
Ring chromosome 21 syndrome Occurrence Congenital true Inferred relationship Some 1
Ring chromosome 21 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Ring chromosome 21 syndrome Finding site Chromosome pair 21 true Inferred relationship Some 1
Ring chromosome 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Some 1
Ring chromosome 21 syndrome Associated morphology Ring chromosome false Inferred relationship Some 2
Ring chromosome 21 syndrome Occurrence Congenital false Inferred relationship Some
Ring chromosome 21 syndrome Finding site Sex chromosome false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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