FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

718689000: Distal trisomy 10q (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401816019 Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401817011 Distal trisomy of the long arm of chromosome 10 (10q) is characterised by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313220011 Distal trisomy 10q (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313221010 Distal trisomy 10q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313227014 Distal duplication 10q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
942211000172118 trisomie distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1012791000172119 duplication distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441191001000116 Trisomie 10q, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. Is a 10q partial trisomy syndrome true Inferred relationship Some
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. Associated morphology Partial trisomy true Inferred relationship Some 1
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. Occurrence Congenital true Inferred relationship Some 1
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. Finding site Chromosome pair 10 true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start