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718687003: Distal monosomy 10q syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3313217015 Distal monosomy 10q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313218013 Distal deletion 10q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555201011 Distal monosomy 10q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555202016 Distal monosomy 10q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401813010 Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401814016 Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterised by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313216012 Distal monosomy 10q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313216012 Distal monosomy 10q (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313217015 Distal monosomy 10q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313217015 Distal monosomy 10q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313218013 Distal deletion 10q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313218013 Distal deletion 10q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555201011 Distal monosomy 10q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555202016 Distal monosomy 10q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313219017 A chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 resulting in characteristics of facial dysmorphism, pre and postnatal growth retardation, cardiac and genital anomalies and developmental delay. Prevalence is unknown but around 40 cases have been described in the literature so far. Genital abnormalities have been mostly reported in males, psychomotor retardation (generally described as mild) was present in all reported cases. Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401813010 Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401814016 Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterised by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3414991001000114 Monosomie 10q, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
979911000172115 monosomie distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
987001000172115 délétion distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
979911000172115 monosomie distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
987001000172115 délétion distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414991001000114 Monosomie 10q, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal monosomy 10q Is a 10q partial monosomy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 10q Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 10q Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 10q Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 10q Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 10q Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 10q Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 10q Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 10q Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 10q Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 10q Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 10q Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 10q Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 10q Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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