763276000: syndroom van distale trisomie 7p (aandoening)

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

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

\Congenital malformation\Distal trisomy 7p syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\Distal trisomy 7p syndrome (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\Distal trisomy 7p syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\Distal trisomy 7p syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\Distal trisomy 7p syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\Distal trisomy 7p syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\Distal trisomy 7p syndrome (disorder)

\Developmental disorder\Congenital malformation\Distal trisomy 7p syndrome (disorder)

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

3638363011 Distal trisomy 7p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3638364017 Distal duplication 7p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555209013 Distal trisomy 7p syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555210015 Distal trisomy 7p syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7975451000146118 syndroom van distale trisomie 7p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7975471000146114 distale trisomie van korte arm van chromosoom 7 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7975481000146111 syndroom van distale trisomie 7p (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7975491000146113 distale trisomie 7p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7975711000146112 telomerische duplicatie 7p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3638365016 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. The disorder has a highly variable phenotype with typical characteristics of severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro/retrognathia) and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. 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 7p syndrome (disorder)	Is a	7p partial trisomy (disorder)	true	Inferred relationship	Some
Distal trisomy 7p syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 7p syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 7p syndrome (disorder)	Finding site	Chromosome pair 7	false	Inferred relationship	Some	1
Distal trisomy 7p syndrome (disorder)	Finding site	Chromosome pair 7	true	Inferred relationship	Some	2
Distal trisomy 7p syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal trisomy 7p syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Distal trisomy 7p syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal trisomy 7p syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Distal trisomy 7p syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
Distal trisomy 7p syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3638363011	Distal trisomy 7p	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638364017	Distal duplication 7p	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555209013	Distal trisomy 7p syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555210015	Distal trisomy 7p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7975451000146118	syndroom van distale trisomie 7p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7975471000146114	distale trisomie van korte arm van chromosoom 7	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7975481000146111	syndroom van distale trisomie 7p (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7975491000146113	distale trisomie 7p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7975711000146112	telomerische duplicatie 7p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3638365016	A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. The disorder has a highly variable phenotype with typical characteristics of severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro/retrognathia) and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core