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

770629000: Distal 17p13.1 microdeletion syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3701700017 Distal 17p13.1 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701701018 Distal 17p13.1 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404850012 Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404851011 Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterised by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701700017 Distal 17p13.1 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701701018 Distal 17p13.1 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701702013 A rare chromosomal anomaly syndrome with characteristics of mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404850012 Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404851011 Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterised by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442121001000112 Mikrodeletionssyndrom 17p13.1, distal de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
936451000172116 del(17)(p13.1) distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980061000172118 syndrome de microdélétion 17p13.1 distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
936451000172116 del(17)(p13.1) distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980061000172118 syndrome de microdélétion 17p13.1 distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442121001000112 Mikrodeletionssyndrom 17p13.1, distal 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 17p13.1 microdeletion syndrome Is a Deletion of part of short arm of chromosome 17 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Distal 17p13.1 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 17p13.1 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 17p13.1 microdeletion syndrome Finding site Chromosome pair 17 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 17p13.1 microdeletion syndrome Finding site Chromosome pair 17 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 17p13.1 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 17p13.1 microdeletion syndrome Associated morphology Deletion of short arm 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