22006008: Hypertelorism (disorder)

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

\Finding of head and neck region\Head finding (finding)\...

\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism

\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism
\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism
\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
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism
\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypertelorism	Is a	Congenital anomaly of skull	true	Inferred relationship	Some
Hypertelorism	Is a	Congenital anomaly of orbit	false	Inferred relationship	Some
Hypertelorism	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Hypertelorism	Associated morphology	Hypertrophy	false	Inferred relationship	Some	1
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Hypertelorism	Finding site	Sphenoid bone structure	true	Inferred relationship	Some	1
Hypertelorism	Finding site	Orbital region structure	false	Inferred relationship	Some	1
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Some
Hypertelorism	Finding site	Structure of orbit proper	false	Inferred relationship	Some	2
Hypertelorism	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Hypertelorism	Is a	Disorder of skull (disorder)	false	Inferred relationship	Some
Hypertelorism	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Hypertelorism	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Hypertelorism	Is a	Disorder of skull (disorder)	false	Inferred relationship	Some
Hypertelorism	Finding site	Sphenoid bone structure	false	Inferred relationship	Some	1
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Hypertelorism	Finding site	Structure of orbit proper	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	Hypertrophy	false	Inferred relationship	Some	1
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Some	3
Hypertelorism	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Hypertelorism	Finding site	Structure of orbit proper	false	Inferred relationship	Some	3
Hypertelorism	Finding site	Sphenoid bone structure	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Hypertelorism	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypertelorism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	True	Hypertelorism	Inferred relationship	Some
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	False	Hypertelorism	Inferred relationship	Some
Craniolenticulosutural dysplasia (disorder)	Is a	True	Hypertelorism	Inferred relationship	Some
Charlie M syndrome (disorder)	Is a	True	Hypertelorism	Inferred relationship	Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	Is a	True	Hypertelorism	Inferred relationship	Some
Intellectual disability, short stature, hypertelorism syndrome	Is a	True	Hypertelorism	Inferred relationship	Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Is a	True	Hypertelorism	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	True	Hypertelorism	Inferred relationship	Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Is a	True	Hypertelorism	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
36915011	Orbital hypertelorism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481196014	Hypertelorism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
751366013	Hypertelorism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1222696011	Eyes widely set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1222697019	Eyes wide apart	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1222698012	Orbital separation excessive	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5413031000172116	hypertélorisme congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5442231000172111	hypertélorisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
9009631000172110	hypertélorisme orbital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
9009641000172115	écart accru entre les yeux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4233491000172111	hypertelorisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5413021000172119	congenitale hypertelorisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)