1260095004: Menke Hennekam syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Menke Hennekam syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Menke Hennekam syndrome

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

\Finding of head circumference\Microcephaly\Menke Hennekam syndrome

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

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Menke Hennekam syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Menke Hennekam syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Menke Hennekam syndrome

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Menke Hennekam syndrome

\Finding of head circumference\Microcephaly\Menke Hennekam syndrome

\Disease\Genetic disease\Menke Hennekam syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Menke Hennekam syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Developmental disorder\Developmental delay\Menke Hennekam syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Menke Hennekam syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Dec 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5159100014 Menke Hennekam syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5159101013 Menke Hennekam syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Menke Hennekam syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Menke Hennekam syndrome	Is a	Microcephaly	true	Inferred relationship	Existential restriction modifier
Menke Hennekam syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Menke Hennekam syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Menke Hennekam syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Menke Hennekam syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Menke Hennekam syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Menke Hennekam syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Menke Hennekam syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Menke Hennekam syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Menke Hennekam syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	4
Menke Hennekam syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Menke Hennekam syndrome	Interprets	Body height measure	true	Inferred relationship	Existential restriction modifier	5
Menke Hennekam syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
Menke Hennekam syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Menke Hennekam syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Menke Hennekam syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Menke Hennekam syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

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
5159100014	Menke Hennekam syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5159101013	Menke Hennekam syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module