FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

718688008: Distal monosomy 6p (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401815015 Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5424683011 Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognisable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313222015 Distal deletion 6p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313225018 Distal monosomy 6p (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313226017 Distal monosomy 6p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
909921000172117 délétion distale 6p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918651000172111 monosomie distale 6p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385691001000111 Monosomie 6p, 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 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Is a Anomaly of chromosome pair 6 false Inferred relationship Some
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Is a Deletion of part of autosome false Inferred relationship Some
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Occurrence Congenital false Inferred relationship Some 2
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Finding site Chromosome pair 6 false Inferred relationship Some 2
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Occurrence Congenital true Inferred relationship Some 3
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Finding site Chromosome pair 6 true Inferred relationship Some 3
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Associated morphology Deletion of short arm false Inferred relationship Some 2
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 3
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Is a Deletion of part of short arm of chromosome 6 (disorder) true Inferred relationship Some
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Occurrence Congenital true Inferred relationship Some 1
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Finding site Short arm of chromosome true Inferred relationship Some 1
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start