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897529004: Distal deletion of long arm of chromosome 7 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4034249013 Distal deletion of long arm of chromosome 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4034250013 Distal deletion of long arm of chromosome 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4042284014 Distal monosomy 7q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6076581000241114 délétion distale du chromosome 7q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6076591000241111 délétion distale 7q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6076601000241116 délétion distale du bras long du chromosome 7 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal deletion of long arm of chromosome 7 Is a 7q partial monosomy true Inferred relationship Some
Distal deletion of long arm of chromosome 7 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Finding site Chromosome pair 7 true Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Occurrence Congenital true Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Associated morphology Deletion of long arm false Inferred relationship Some 2
Distal deletion of long arm of chromosome 7 Finding site Chromosome pair 7 false Inferred relationship Some 2
Distal deletion of long arm of chromosome 7 Occurrence Congenital false Inferred relationship Some 2
Distal deletion of long arm of chromosome 7 Finding site Long arm of chromosome true Inferred relationship Some 3
Distal deletion of long arm of chromosome 7 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 3
Distal deletion of long arm of chromosome 7 Occurrence Congenital true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). Is a True Distal deletion of long arm of chromosome 7 Inferred relationship Some
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. Is a True Distal deletion of long arm of chromosome 7 Inferred relationship Some

Reference Sets

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