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726377002: Deletion of part of chromosome 7 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3448823014 Deletion of part of chromosome 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448824015 Deletion of part of chromosome 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5855841000241111 délétion d'une partie du chromosome 7 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5855851000241114 délétion partielle du chromosome 7 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

13 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 7 (disorder) Is a Anomaly of chromosome pair 7 (disorder) true Inferred relationship Some
Deletion of part of chromosome 7 (disorder) Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 7 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of chromosome 7 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 7 (disorder) Finding site Chromosome pair 7 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
7p partial monosomy (disorder) Is a True Deletion of part of chromosome 7 (disorder) Inferred relationship Some
7q partial monosomy Is a True Deletion of part of chromosome 7 (disorder) Inferred relationship Some
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 False Deletion of part of chromosome 7 (disorder) 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 False Deletion of part of chromosome 7 (disorder) Inferred relationship Some
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. Is a False Deletion of part of chromosome 7 (disorder) Inferred relationship Some
Proximal deletion of short arm of chromosome 7 (disorder) Is a False Deletion of part of chromosome 7 (disorder) Inferred relationship Some

This concept is not in any reference sets

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