31325007: Ring chromosome 21 syndrome (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\...
• \Ring chromosome\syndrome du chromosome 21 en anneau (trouble)
• \Anomaly of chromosome pair\anomalie du chromosome 21\syndrome du chromosome 21 en anneau (trouble)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome du chromosome 21 en anneau (trouble)
• \Congenital disease\maladie chromosomique congénitale\Ring chromosome\syndrome du chromosome 21 en anneau (trouble)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 21\syndrome du chromosome 21 en anneau (trouble)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome du chromosome 21 en anneau (trouble)

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
416271000241111	syndrome du chromosome 21 en anneau (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
52387014	Ring chromosome 21 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
762434019	Ring chromosome 21 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
991071000172116	syndrome du chromosome 21 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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