FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

81304006: 7q partial monosomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4571153015 7q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4571154014 7q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4655911000241119 monosomie partielle 7q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
7q partial monosomy Is a Deletion of part of autosome false Inferred relationship Some
7q partial monosomy Is a Anomaly of chromosome pair 7 (disorder) false Inferred relationship Some
7q partial monosomy Associated morphology Monosomy false Inferred relationship Some
7q partial monosomy Finding site Sex chromosome false Inferred relationship Some
7q partial monosomy Occurrence Congenital false Inferred relationship Some
7q partial monosomy Finding site Chromosome pair 7 false Inferred relationship Some 1
7q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Some
7q partial monosomy Associated morphology anomalie congénitale false Inferred relationship Some 1
7q partial monosomy Finding site Chromosome pair 7 false Inferred relationship Some 1
7q partial monosomy Associated morphology anomalie congénitale false Inferred relationship Some
7q partial monosomy Occurrence Congenital true Inferred relationship Some 2
7q partial monosomy Occurrence Congenital true Inferred relationship Some 1
7q partial monosomy Finding site Chromosome pair 7 true Inferred relationship Some 1
7q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
7q partial monosomy Finding site Chromosome pair 7 false Inferred relationship Some 2
7q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
7q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Some 2
7q partial monosomy Is a Deletion of part of chromosome 7 (disorder) true Inferred relationship Some
7q partial monosomy Finding site Long arm of chromosome true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
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 7q partial monosomy 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 7q partial monosomy 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 True 7q partial monosomy Inferred relationship Some
Williams syndrome (disorder) Is a True 7q partial monosomy Inferred relationship Some
Distal deletion of long arm of chromosome 7 Is a True 7q partial monosomy Inferred relationship Some
Medial deletion of long arm of chromosome 7 (disorder) Is a True 7q partial monosomy Inferred relationship Some
Proximal deletion of long arm of chromosome 7 (disorder) Is a True 7q partial monosomy Inferred relationship Some

This concept is not in any reference sets

Back to Start