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726382009: Deletion of part of chromosome 12 (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
3448833018 Deletion of part of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448834012 Deletion of part of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448833018 Deletion of part of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448834012 Deletion of part of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6046721000241115 délétion partielle du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6046731000241118 monosomie partielle du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6046721000241115 délétion partielle du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6046731000241118 monosomie partielle du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

11 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 12 (disorder) Is a Anomaly of chromosome pair 12 true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 12 (disorder) Is a Deletion of part of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 12 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 12 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 12 (disorder) Finding site Chromosome pair 12 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
12p partial monosomy syndrome Is a False Deletion of part of chromosome 12 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of long arm of chromosome 12 (disorder) Is a True Deletion of part of chromosome 12 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare partial autosomal monosomy characterised 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 False Deletion of part of chromosome 12 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of 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 False Deletion of part of chromosome 12 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of short arm of chromosome 12 (disorder) Is a True Deletion of part of chromosome 12 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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