22006008: Hypertelorism (disorder)

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

\Head finding (finding)\Skull finding\Disease of skull\Congenital anomaly of skull\Hypertelorism
\Head finding (finding)\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Hypertelorism
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Hypertelorism

\Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Congenital anomaly of skull\Hypertelorism
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Hypertelorism
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Hypertelorism
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Hypertelorism
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Hypertelorism
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\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	Existential restriction modifier (core metadata concept)
Hypertelorism	Is a	Congenital structural abnormality of orbit proper (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertelorism	Is a	Disorder of bone (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertelorism	Associated morphology	Hypertrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Finding site	Sphenoid bone structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypertelorism	Finding site	Orbital region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertelorism	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypertelorism	Is a	Disease of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertelorism	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertelorism	Is a	Disorder of bone (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertelorism	Is a	Disease of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertelorism	Finding site	Sphenoid bone structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Associated morphology	Hypertrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypertelorism	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypertelorism	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypertelorism	Finding site	Sphenoid bone structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypertelorism	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypertelorism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypertelorism	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	Is a	True	Hypertelorism	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	False	Hypertelorism	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniolenticulosutural dysplasia (disorder)	Is a	True	Hypertelorism	Inferred relationship	Existential restriction modifier (core metadata concept)
Charlie M syndrome (disorder)	Is a	True	Hypertelorism	Inferred relationship	Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	Is a	True	Hypertelorism	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability, short stature, hypertelorism syndrome	Is a	True	Hypertelorism	Inferred relationship	Existential restriction modifier (core metadata concept)
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Is a	True	Hypertelorism	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	True	Hypertelorism	Inferred relationship	Existential restriction modifier (core metadata concept)
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Is a	True	Hypertelorism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
36915011	Orbital hypertelorism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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
4460831000241118	hypertélorisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4460831000241118	hypertélorisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module