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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\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 of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome

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

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disorder of head\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\Impaired cognition\Intellectual disability\Intellectual disability, short stature, hypertelorism syndrome
\Functional finding\Cognitive function 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

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

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\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 of skull\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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 of skull\Congenital anomaly of skull\Hypertelorism\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Disorder of head\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\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\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\Congenital anomaly\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\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, short stature, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\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, Primitive. 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 Active Case insensitive SNOMED CT core

3704210012 Intellectual disability, short stature, hypertelorism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3704211011 Stoll Geraudel Chauvin syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, short stature, hypertelorism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability, short stature, hypertelorism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Intellectual disability, short stature, hypertelorism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Intellectual disability, short stature, hypertelorism syndrome	Pathological process	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	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 behaviour	true	Inferred relationship	Some	5
Intellectual disability, short stature, hypertelorism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3704209019	Intellectual disability, short stature, hypertelorism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3704210012	Intellectual disability, short stature, hypertelorism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3704211011	Stoll Geraudel Chauvin syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core