1260095004: Menke Hennekam syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Intellectual ability - finding\Intellectual disability\Menke Hennekam syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5159100014 Menke Hennekam syndrome en Synonym Active Case sensitive SNOMED CT core

5159101013 Menke Hennekam syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5159102018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. en Definition Active Case sensitive SNOMED CT core

5159103011 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by variable intellectual disability, developmental delay, autistic behaviour, short stature and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5159100014	Menke Hennekam syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5159101013	Menke Hennekam syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5159102018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum.	en	Definition	Active	Case sensitive	SNOMED CT core
5159103011	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by variable intellectual disability, developmental delay, autistic behaviour, short stature and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum.	en	Definition	Active	Case sensitive	SNOMED CT core