764520001: syndroom van distale trisomie 9q (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 9\Trisomy 9\Partial trisomy of chromosome 9 (disorder)\9q partial trisomy syndrome (disorder)\Distal trisomy 9q

\Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9 (disorder)\9q partial trisomy syndrome (disorder)\Distal trisomy 9q

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3650189010 Distal trisomy 9q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650190018 Distal duplication 9q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650191019 Telomeric duplication 9q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650192014 Distal trisomy 9q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7975991000146118 syndroom van distale trisomie 9q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7976001000146119 distale trisomie 9q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7976021000146110 syndroom van distale trisomie 9q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7976041000146116 distale trisomie van lange arm van chromosoom 9 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7985271000146119 telomerische duplicatie 9q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3649932014 A rare chromosomal anomaly resulting from the partial trisomy of the long arm of chromosome 9 with a variable phenotype. The disease has characteristics of psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 9q	Is a	9q partial trisomy syndrome (disorder)	true	Inferred relationship	Some
Distal trisomy 9q	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 9q	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 9q	Finding site	Chromosome pair 9	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets