FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

764524005: syndroom van distale 22q11.2-microduplicatie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3650203017 Distal trisomy 22q11.2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650204011 Distal 22q11.2 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650205012 Distal 22q11.2 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7966581000146110 syndroom van distale 22q11.2-microduplicatie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7966591000146112 syndroom van distale 22q11.2-microduplicatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7966601000146119 distale 22q11.2-microduplicatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3650047017 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslanting palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities and seizures have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal 22q11.2 microduplication syndrome (disorder) Is a 22q partial trisomy (disorder) true Inferred relationship Some
Distal 22q11.2 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
Distal 22q11.2 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Distal 22q11.2 microduplication syndrome (disorder) Finding site Chromosome pair 22 false Inferred relationship Some 1
Distal 22q11.2 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal 22q11.2 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Distal 22q11.2 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Distal 22q11.2 microduplication syndrome (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
Distal 22q11.2 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Distal 22q11.2 microduplication syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Distal 22q11.2 microduplication syndrome (disorder) Finding site Chromosome pair 22 true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start