1388885002: Cohen Gibson 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\Cohen Gibson 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\Cohen Gibson 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\Cohen Gibson syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Abnormal behavior\Intellectual disability\Genetic intellectual disability\Cohen Gibson syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Cohen Gibson syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Cohen Gibson syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Cohen Gibson syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Cohen Gibson syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Cohen Gibson syndrome (disorder)

\Disease\Genetic disease\Genetic intellectual disability\Cohen Gibson syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cohen Gibson syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cohen Gibson syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cohen Gibson syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Cohen Gibson syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cohen Gibson 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\Cohen Gibson 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\Cohen Gibson syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Cohen Gibson syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Cohen Gibson syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cohen Gibson syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Cohen Gibson 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\Cohen Gibson syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Cohen Gibson syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

6156358011 Cohen Gibson syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
6156359015 Cohen Gibson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6156360013 EED gene related overgrowth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6156361012 A rare PRC-2 complex-related overgrowth spectrum disorder characterized by tall stature, intellectual disability (more severe than other diseases in the spectrum), persistent dysmorphic features (including hypertelorism, large fleshy ears, retrognathia, crease between the mouth and the chin) that remains distinguishable in adulthood, severe musculoskeletal abnormalities (including kyphosis and/or scoliosis, abnormalities of the cervical spine, restricted joint movement and unusually large hands). Cardiac problems, cryptorchidism and umbilical hernias are more frequent whereas presence of tumors is less frequent compared to other diseases in the spectrum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
6156362017 A rare PRC-2 complex-related overgrowth spectrum disorder characterised by tall stature, intellectual disability (more severe than other diseases in the spectrum), persistent dysmorphic features (including hypertelorism, large fleshy ears, retrognathia, crease between the mouth and the chin) that remains distinguishable in adulthood, severe musculoskeletal abnormalities (including kyphosis and/or scoliosis, abnormalities of the cervical spine, restricted joint movement and unusually large hands). Cardiac problems, cryptorchidism and umbilical hernias are more frequent whereas presence of tumours is less frequent compared to other diseases in the spectrum. 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
Cohen Gibson syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cohen Gibson syndrome (disorder)	Is a	Genetic intellectual disability	true	Inferred relationship	Some
Cohen Gibson syndrome (disorder)	Is a	Disorder of stature	true	Inferred relationship	Some
Cohen Gibson syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cohen Gibson syndrome (disorder)	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Cohen Gibson syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Cohen Gibson syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Cohen Gibson syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Cohen Gibson syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Cohen Gibson syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Cohen Gibson syndrome (disorder)	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	4
Cohen Gibson syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	4
Cohen Gibson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cohen Gibson syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Cohen Gibson syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cohen Gibson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
6156358011	Cohen Gibson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156359015	Cohen Gibson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156360013	EED gene related overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156361012	A rare PRC-2 complex-related overgrowth spectrum disorder characterized by tall stature, intellectual disability (more severe than other diseases in the spectrum), persistent dysmorphic features (including hypertelorism, large fleshy ears, retrognathia, crease between the mouth and the chin) that remains distinguishable in adulthood, severe musculoskeletal abnormalities (including kyphosis and/or scoliosis, abnormalities of the cervical spine, restricted joint movement and unusually large hands). Cardiac problems, cryptorchidism and umbilical hernias are more frequent whereas presence of tumors is less frequent compared to other diseases in the spectrum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156362017	A rare PRC-2 complex-related overgrowth spectrum disorder characterised by tall stature, intellectual disability (more severe than other diseases in the spectrum), persistent dysmorphic features (including hypertelorism, large fleshy ears, retrognathia, crease between the mouth and the chin) that remains distinguishable in adulthood, severe musculoskeletal abnormalities (including kyphosis and/or scoliosis, abnormalities of the cervical spine, restricted joint movement and unusually large hands). Cardiac problems, cryptorchidism and umbilical hernias are more frequent whereas presence of tumours is less frequent compared to other diseases in the spectrum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core