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

890117001: 20p12.2 deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4011190014 20p12.2 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4011191013 20p12.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4011190014 20p12.2 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4011191013 20p12.2 deletion 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
20p12.2 deletion syndrome (disorder) Is a Deletion of part of short arm of chromosome 20 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
20p12.2 deletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
20p12.2 deletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
20p12.2 deletion syndrome (disorder) Finding site Chromosome pair 20 true Inferred relationship Existential restriction modifier (core metadata concept) 1
20p12.2 deletion syndrome (disorder) Finding site Chromosome pair 20 false Inferred relationship Existential restriction modifier (core metadata concept) 2
20p12.2 deletion syndrome (disorder) Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
20p12.2 deletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
20p12.2 deletion syndrome (disorder) Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
20p12.2 deletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
20p12.2 deletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
20p12.2 deletion syndrome (disorder) Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 2
20p12.2 deletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) 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