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17122004: 4p partial monosomy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
28958010 4p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28959019 Chromosome 4 short arm deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28960012 4p minus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28961011 Midline fusion defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
744279014 4p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1221474011 Deletion of short arm of chromosome 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28958010 4p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
28958010 4p partial monosomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
28958010 4p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28959019 Chromosome 4 short arm deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
28959019 Chromosome 4 short arm deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28960012 4p minus syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
28960012 4p minus syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
28960012 4p minus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28961011 Midline fusion defect syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
28961011 Midline fusion defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28962016 Wolff-Hirschhorn syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
744279014 4p partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
744279014 4p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
744279014 4p partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
744279014 4p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1221473017 Wolff-Hirschorn syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1221474011 Deletion of short arm of chromosome 4 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1221474011 Deletion of short arm of chromosome 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1221475012 WHS - Wolff-Hirschorn syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1221475012 WHS - Wolff-Hirschorn syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2840895019 WHS - Wolf-Hirschhorn syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2842343010 Wolf-Hirschhorn syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4445351000241117 monosomie partielle 4p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4445351000241117 monosomie partielle 4p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
4p partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Is a Anomaly of chromosome pair 4 false Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Finding site Chromosome pair 4 false Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Finding site Chromosome pair 4 false Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Finding site Chromosome pair 4 true Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
4p partial monosomy syndrome Associated morphology Deletion of short arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
4p partial monosomy syndrome Finding site Chromosome pair 4 true Inferred relationship Existential restriction modifier (core metadata concept) 2
4p partial monosomy syndrome Is a Deletion of part of chromosome 4 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Is a False 4p partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated with True 4p partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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