718226002: Wolf Hirschhorn syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Wolf Hirschhorn syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Wolf Hirschhorn syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Wolf Hirschhorn syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Wolf Hirschhorn syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Wolf Hirschhorn syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Wolf Hirschhorn syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Wolf Hirschhorn syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3311588010 Wolf Hirschhorn syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3311589019 Wolf Hirschhorn syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401738013 A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401739017 A developmental disorder characterised by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Wolf Hirschhorn syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Wolf Hirschhorn syndrome (disorder)	Is a	Anomaly of chromosome pair 4	true	Inferred relationship	Some
Wolf Hirschhorn syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Wolf Hirschhorn syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Wolf Hirschhorn syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Wolf Hirschhorn syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Wolf Hirschhorn syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Wolf Hirschhorn syndrome (disorder)	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	3
Wolf Hirschhorn syndrome (disorder)	Finding site	Chromosome pair 4	false	Inferred relationship	Some	3
Wolf Hirschhorn syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Wolf Hirschhorn syndrome (disorder)	Finding site	Chromosome pair 4	true	Inferred relationship	Some	1
Wolf Hirschhorn syndrome (disorder)	Associated morphology	Deletion of short arm	true	Inferred relationship	Some	1
Wolf Hirschhorn syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Wolf Hirschhorn syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Wolf Hirschhorn syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Wolf Hirschhorn syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Wolf Hirschhorn syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Wolf Hirschhorn syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Wolf Hirschhorn syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Wolf Hirschhorn syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3311588010	Wolf Hirschhorn syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311589019	Wolf Hirschhorn syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401738013	A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401739017	A developmental disorder characterised by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core