782673001: distale monosomie 4q (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\Distal monosomy 4q

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\Distal monosomy 4q

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\Distal monosomy 4q

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\Distal monosomy 4q

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

3755100012 Distal monosomy 4q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3755101011 Distal deletion 4q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3755102016 Distal monosomy 4q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3755103014 Telomeric deletion 4q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7886521000146119 distale monosomie 4q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7886531000146117 distale monosomie 4q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8033351000146113 distale monosomie van lange arm van chromosoom 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3755104015 A partial autosomal monosomy with characteristics of a variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. 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 monosomy 4q	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal monosomy 4q	Finding site	Chromosome pair 4	true	Inferred relationship	Some	2
Distal monosomy 4q	Is a	4q partial monosomy syndrome	true	Inferred relationship	Some
Distal monosomy 4q	Finding site	Chromosome pair 4	true	Inferred relationship	Some	1
Distal monosomy 4q	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal monosomy 4q	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Distal monosomy 4q	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets