771077007: Intellectual disability, short stature, hypertelorism syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, short stature, hypertelorism syndrome

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Intellectual disability, short stature, hypertelorism syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Intellectual disability, short stature, hypertelorism syndrome

\Finding of head and neck region\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\Intellectual disability, short stature, hypertelorism syndrome

\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome

\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, short stature, hypertelorism syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, short stature, hypertelorism syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, short stature, hypertelorism syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism 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\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Intellectual disability, short stature, hypertelorism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3704209019 Intellectual disability, short stature, hypertelorism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704210012 Intellectual disability, short stature, hypertelorism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704211011 Stoll Geraudel Chauvin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3704212016 A rare genetic syndromic intellectual disability affecting males with characteristics of short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

14039111000172115 syndrome de déficience intellectuelle, petite taille et hypertélorisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14039121000172113 syndrome de Stoll-Geraudel-Chauvin fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5034811000172118 syndroom van Stoll-Géraudel-Chauvin nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5034821000172111 syndroom van verstandelijke beperking, kleine gestalte en hypertelorisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5034831000172114 Stoll-Géraudel-Chauvin-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5034841000172119 syndroom van verstandelijke handicap, kleine lengte en hypertelorisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, short stature, hypertelorism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Intellectual disability, short stature, hypertelorism syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Intellectual disability, short stature, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, short stature, hypertelorism syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, short stature, hypertelorism syndrome	Is a	Hypertelorism	true	Inferred relationship	Some
Intellectual disability, short stature, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Intellectual disability, short stature, hypertelorism syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Intellectual disability, short stature, hypertelorism syndrome	Finding site	Sphenoid bone structure	true	Inferred relationship	Some	2
Intellectual disability, short stature, hypertelorism syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability, short stature, hypertelorism syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Intellectual disability, short stature, hypertelorism syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, short stature, hypertelorism syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, short stature, hypertelorism syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Intellectual disability, short stature, hypertelorism syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Intellectual disability, short stature, hypertelorism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Intellectual disability, short stature, hypertelorism syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Intellectual disability, short stature, hypertelorism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5

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
3704209019	Intellectual disability, short stature, hypertelorism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704210012	Intellectual disability, short stature, hypertelorism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704211011	Stoll Geraudel Chauvin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704212016	A rare genetic syndromic intellectual disability affecting males with characteristics of short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14039111000172115	syndrome de déficience intellectuelle, petite taille et hypertélorisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14039121000172113	syndrome de Stoll-Geraudel-Chauvin	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5034811000172118	syndroom van Stoll-Géraudel-Chauvin	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5034821000172111	syndroom van verstandelijke beperking, kleine gestalte en hypertelorisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5034831000172114	Stoll-Géraudel-Chauvin-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5034841000172119	syndroom van verstandelijke handicap, kleine lengte en hypertelorisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)