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782676009: syndroom van distale trisomie 18q (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755114012 Distal duplication 18q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755115013 Telomeric duplication 18q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755116014 Distal trisomy 18q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755117017 Distal trisomy 18q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7967591000146110 syndroom van distale trisomie 18q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7967601000146117 syndroom van distale trisomie 18q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7967611000146115 distale trisomie 18q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7967631000146110 distale trisomie van lange arm van chromosoom 18 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968131000146118 telomerische duplicatie 18q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3755118010 A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features. 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 18q Associated morphology Partial trisomy true Inferred relationship Some 2
Distal trisomy 18q Occurrence Congenital true Inferred relationship Some 1
Distal trisomy 18q Associated morphology Partial trisomy true Inferred relationship Some 1
Distal trisomy 18q Occurrence Congenital true Inferred relationship Some 2
Distal trisomy 18q Is a 18q partial trisomy syndrome true Inferred relationship Some
Distal trisomy 18q Finding site Long arm of chromosome true Inferred relationship Some 2
Distal trisomy 18q Finding site Chromosome pair 18 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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