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

764628000: Mosaic trisomy 4 syndrome (disorder)

Status: current, 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
3654260012 Mosaic trisomy chromosome 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654261011 Mosaic trisomy 4 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654262016 Trisomy 4 mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654263014 Mosaic trisomy 4 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404344011 Mosaic trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorly rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404345012 Mosaic trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterised by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorly rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3654260012 Mosaic trisomy chromosome 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654261011 Mosaic trisomy 4 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654262016 Trisomy 4 mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654263014 Mosaic trisomy 4 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654264015 A rare autosomal anomaly due to the presence of an extra copy of chromosome 4 in a fraction of all cells with a variable phenotype. Typical characteristics are intrauterine growth retardation, low birth weight/length/head circumference, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posterior rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404344011 Mosaic trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorly rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404345012 Mosaic trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterised by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorly rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440881001000118 Mosaik-Trisomie 4 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503841000241118 trisomie 4 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503841000241118 trisomie 4 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440881001000118 Mosaik-Trisomie 4 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
Mosaic trisomy 4 syndrome (disorder) Is a Anomaly of chromosome pair 4 true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 4 syndrome (disorder) Is a Trisomy and partial trisomy of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 4 syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 4 syndrome (disorder) Finding site Chromosome pair 4 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 4 syndrome (disorder) Associated morphology Chromosome mosaicism true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 4 syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 4 syndrome (disorder) Associated morphology Trisomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 4 syndrome (disorder) Finding site Chromosome pair 4 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start