1260095004: Menke Hennekam syndrome (disorder)

\Finding of head circumference\Microcephaly (finding)\Menke Hennekam syndrome

\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\Menke Hennekam syndrome

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Menke Hennekam syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Menke Hennekam syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Menke Hennekam syndrome

\Disease\Genetic disease\Menke Hennekam syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Menke Hennekam syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 (disorder)\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 (disorder)\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 (core metadata concept). Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5159100014 Menke Hennekam syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

5787951000052118 Menke Hennekams syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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 (finding)	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 (observable entity)	true	Inferred relationship	Some	2
Menke Hennekam syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Menke Hennekam syndrome	Interprets	Adaptation behavior (observable entity)	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 (observable entity)	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 (morphologic abnormality)	true	Inferred relationship	Some	1
Menke Hennekam syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5159101013	Menke Hennekam syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5787951000052118	Menke Hennekams syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)