718226002: Wolf Hirschhorn syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\...

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

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Wolf Hirschhorn syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Wolf Hirschhorn syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Wolf Hirschhorn syndrome

\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Wolf Hirschhorn syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Wolf Hirschhorn syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Wolf Hirschhorn syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3311589019 Wolf Hirschhorn syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3311588010	Wolf Hirschhorn syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3311589019	Wolf Hirschhorn syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module