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1162440009: Deletion of part of short arm of chromosome 12 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4589390015 Deletion of part of short arm of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589391016 Deletion of part of short arm of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5907261000241116 délétion d'une partie du bras court du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5907271000241112 délétion partielle du bras court du chromosome 12 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
Deletion of part of short arm of chromosome 12 (disorder) Is a Deletion of part of chromosome 12 (disorder) true Inferred relationship Some
Deletion of part of short arm of chromosome 12 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) Finding site Chromosome pair 12 true Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of part of short arm of chromosome 12 (disorder) Finding site Short arm of chromosome true Inferred relationship Some 2
Deletion of part of short arm of chromosome 12 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Is a True Deletion of part of short arm of chromosome 12 (disorder) Inferred relationship Some
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterised by intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations. Is a True Deletion of part of short arm of chromosome 12 (disorder) Inferred relationship Some

This concept is not in any reference sets

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