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766053003: syndroom van distale trisomie 1p36 (aandoening)

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

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

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal trisomy 1p36

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1 (disorder)\Distal trisomy 1p36
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1 (disorder)\Distal trisomy 1p36

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal trisomy 1p36

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

3660639016 Distal duplication 1p36 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660641015 Distal trisomy 1p36 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660642010 Telomeric duplication 1p36 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660643017 Distal trisomy 1p36 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660644011 Distal trisomy 1p36 syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7968141000146114 telomerische duplicatie 1p36 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7968161000146110 distale trisomie 1p36 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7968171000146116 syndroom van distale trisomie 1p36 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7968181000146119 syndroom van distale trisomie 1p36 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3659799017 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 1. The disease has characteristics of borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (for example atrial septal defect, patent ductus arteriosus) have also 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 1p36	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Distal trisomy 1p36	Is a	Partial trisomy of short arm of chromosome 1 (disorder)	true	Inferred relationship	Some
Distal trisomy 1p36	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 1p36	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 1p36	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Distal trisomy 1p36	Finding site	Short arm of chromosome	false	Inferred relationship	Some	2
Distal trisomy 1p36	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal trisomy 1p36	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
Distal trisomy 1p36	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Distal trisomy 1p36	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal trisomy 1p36	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Distal trisomy 1p36	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1

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
3660639016	Distal duplication 1p36	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660641015	Distal trisomy 1p36	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660642010	Telomeric duplication 1p36	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660643017	Distal trisomy 1p36 syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660644011	Distal trisomy 1p36 syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7968141000146114	telomerische duplicatie 1p36	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968161000146110	distale trisomie 1p36	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968171000146116	syndroom van distale trisomie 1p36	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968181000146119	syndroom van distale trisomie 1p36 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3659799017	A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 1. The disease has characteristics of borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (for example atrial septal defect, patent ductus arteriosus) have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core