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

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior 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\Finding of intellectual ability\Intellectual disability\Intellectual disability, short stature, hypertelorism syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\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 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\Disorder of musculoskeletal system\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\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 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 malformation\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 malformation\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 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\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\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\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\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. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3704209019 Intellectual disability, short stature, hypertelorism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

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

3704211011 Stoll Geraudel Chauvin syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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	Existential restriction modifier
Intellectual disability, short stature, hypertelorism syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Intellectual disability, short stature, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Intellectual disability, short stature, hypertelorism syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Intellectual disability, short stature, hypertelorism syndrome	Is a	Hypertelorism	true	Inferred relationship	Existential restriction modifier
Intellectual disability, short stature, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Intellectual disability, short stature, hypertelorism syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Intellectual disability, short stature, hypertelorism syndrome	Finding site	Sphenoid bone structure	true	Inferred relationship	Existential restriction modifier	2
Intellectual disability, short stature, hypertelorism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Intellectual disability, short stature, hypertelorism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Intellectual disability, short stature, hypertelorism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Intellectual disability, short stature, hypertelorism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Intellectual disability, short stature, hypertelorism syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3
Intellectual disability, short stature, hypertelorism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Intellectual disability, short stature, hypertelorism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Intellectual disability, short stature, hypertelorism syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Intellectual disability, short stature, hypertelorism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	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	Active	Entire term case insensitive	SNOMED CT core module
3704210012	Intellectual disability, short stature, hypertelorism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3704211011	Stoll Geraudel Chauvin syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module