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

782673001: Distal monosomy 4q (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
3755100012 Distal monosomy 4q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755101011 Distal deletion 4q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755102016 Distal monosomy 4q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755103014 Telomeric deletion 4q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755104015 A partial autosomal monosomy with characteristics of a variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755100012 Distal monosomy 4q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755101011 Distal deletion 4q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755102016 Distal monosomy 4q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755103014 Telomeric deletion 4q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755104015 A partial autosomal monosomy with characteristics of a variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3435141001000114 Monosomie 4q, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590361000241118 monosomie distale 4q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590361000241118 monosomie distale 4q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435141001000114 Monosomie 4q, distale 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
Distal monosomy 4q Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 4q Finding site Chromosome pair 4 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 4q Is a 4q partial monosomy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 4q Finding site Chromosome pair 4 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 4q Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 4q Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 4q Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start