FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

9527009: Tetrasomy 12p syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
16673017 Killian-Teschler-Nicola syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
16674011 Pallister mosaic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3010792013 Pallister-Killian syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4589822012 Isochromosome 12p syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589823019 Tetrasomy 12p syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589824013 Tetrasomy 12p syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tetrasomy 12p syndrome (disorder) Is a Anomaly of chromosome pair 12 true Inferred relationship Some
Tetrasomy 12p syndrome (disorder) Finding site Chromosome pair 12 false Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Associated morphology Tetrasomy true Inferred relationship Some 2
Tetrasomy 12p syndrome (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
Tetrasomy 12p syndrome (disorder) Occurrence Congenital false Inferred relationship Some
Tetrasomy 12p syndrome (disorder) Finding site Sex chromosome false Inferred relationship Some
Tetrasomy 12p syndrome (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Finding site Chromosome pair 12 false Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Associated morphology Congenital anomaly false Inferred relationship Some
Tetrasomy 12p syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Finding site Chromosome pair 12 true Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Tetrasomy 12p syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Tetrasomy 12p syndrome (disorder) Associated morphology Tetrasomy true Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Tetrasomy 12p syndrome (disorder) Finding site Short arm of chromosome true Inferred relationship Some 2
Tetrasomy 12p syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Tetrasomy 12p syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Tetrasomy 12p syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Tetrasomy 12p syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Tetrasomy 12p syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start