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763274002: syndroom van distale trisomie 5q (aandoening)


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
3638354014 Distal duplication 5q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638356011 Distal trisomy 5q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4565137011 Distal trisomy 5q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4565138018 Distal trisomy 5q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7968791000146118 syndroom van distale trisomie 5q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968801000146119 distale trisomie 5q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968811000146117 syndroom van distale trisomie 5q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968821000146110 distale trisomie van lange arm van chromosoom 5 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968841000146116 telomerische duplicatie 5q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3638357019 A rare chromosomal anomaly syndrome resulting from a partial duplication of the long arm of chromosome 5. The disorder has characteristics of short stature, moderate intellectual disability, craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). 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
Distal trisomy 5q syndrome (disorder) Is a Partial trisomy of long arm of chromosome 5 true Inferred relationship Some
Distal trisomy 5q syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Distal trisomy 5q syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Distal trisomy 5q syndrome (disorder) Finding site Long arm of chromosome true Inferred relationship Some 2
Distal trisomy 5q syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Distal trisomy 5q syndrome (disorder) Finding site Chromosome pair 5 true Inferred relationship Some 1
Distal trisomy 5q syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
Distal trisomy 5q syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Distal trisomy 5q syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal trisomy 5q syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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