FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

787411009: Monosomy 22 syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3775333010 Deletion 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775335015 Monosomy 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555265016 Monosomy 22 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555266015 Monosomy 22 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775336019 A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high prominent narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3775333010 Deletion 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775334016 Monosomy 22 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775335015 Monosomy 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555265016 Monosomy 22 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555266015 Monosomy 22 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775336019 A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high prominent narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3433611001000117 Monosomie 22 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5593041000241110 monosomie 22 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5593041000241110 monosomie 22 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433611001000117 Monosomie 22 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Monosomy 22 syndrome (disorder) Is a Monosomy and deletion from autosome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy 22 syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 22 syndrome (disorder) Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 22 syndrome (disorder) Associated morphology Monosomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 22 syndrome (disorder) Is a Anomaly of chromosome pair 22 true Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy 22 syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 22 syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy 22 syndrome (disorder) Is a Complete monosomy of autosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start