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699254009: 15q13.3-microdeletie syndroom (aandoening)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983307014 15q13.3 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983429014 15q13.3 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983673017 Microdeletion of chromosome 15q13.3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3015079019 Microdeletion of chromosome 15q13.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
9916411000146112 microdeletie van chromosoom 15q13.3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10697741000146116 15q13.3-microdeletie syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10697751000146118 15q13.3-microdeletie syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
15q13.3 microdeletion Is a Anomaly of chromosome pair 15 false Inferred relationship Some
15q13.3 microdeletion Occurrence Congenital false Inferred relationship Some
15q13.3 microdeletion Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
15q13.3 microdeletion Associated morphology Deletion of long arm false Inferred relationship Some 2
15q13.3 microdeletion Occurrence Congenital true Inferred relationship Some 1
15q13.3 microdeletion Finding site Chromosome pair 15 false Inferred relationship Some 1
15q13.3 microdeletion Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
15q13.3 microdeletion Is a Partial deletion of long arm of chromosome 15 (disorder) true Inferred relationship Some
15q13.3 microdeletion Is a Congenital malformation true Inferred relationship Some
15q13.3 microdeletion Finding site Long arm of chromosome true Inferred relationship Some 1
15q13.3 microdeletion Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
15q13.3 microdeletion Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
15q13.3 microdeletion Occurrence Congenital true Inferred relationship Some 2
15q13.3 microdeletion Finding site Chromosome pair 15 true Inferred relationship Some 2
15q13.3 microdeletion Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
15q13.3 microdeletion Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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