22006008: Hypertelorism (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Skull finding\Disorder of skull\Congenital anomaly of skull\Hypertelorism

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Hypertelorism
\Disorder of head\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\Congenital anomaly of skull\Hypertelorism
\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
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Hypertelorism
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

36915011 Orbital hypertelorism en Synonym Active Entire term case insensitive SNOMED CT core module

481196014 Hypertelorism en Synonym Active Entire term case insensitive SNOMED CT core module

751366013 Hypertelorism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1222696011 Eyes widely set en Synonym Active Entire term case insensitive SNOMED CT core module

1222697019 Eyes wide apart en Synonym Active Entire term case insensitive SNOMED CT core module

1222698012 Orbital separation excessive en Synonym Active Entire term case insensitive SNOMED CT core module

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
Hypertelorism	Is a	Congenital anomaly of orbit proper	false	Inferred relationship	Existential restriction modifier
Hypertelorism	Is a	Disorder of bone	false	Inferred relationship	Existential restriction modifier
Hypertelorism	Associated morphology	Hypertrophy	false	Inferred relationship	Existential restriction modifier	1
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Finding site	Sphenoid bone structure	true	Inferred relationship	Existential restriction modifier	1
Hypertelorism	Finding site	Orbital region structure	false	Inferred relationship	Existential restriction modifier	1
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Hypertelorism	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Hypertelorism	Is a	Disorder of skull	false	Inferred relationship	Existential restriction modifier
Hypertelorism	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier
Hypertelorism	Is a	Disorder of bone	false	Inferred relationship	Existential restriction modifier
Hypertelorism	Is a	Disorder of skull	false	Inferred relationship	Existential restriction modifier
Hypertelorism	Finding site	Sphenoid bone structure	false	Inferred relationship	Existential restriction modifier	1
Hypertelorism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Associated morphology	Hypertrophy	false	Inferred relationship	Existential restriction modifier	1
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Hypertelorism	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Hypertelorism	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier	3
Hypertelorism	Finding site	Sphenoid bone structure	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Hypertelorism	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Hypertelorism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hypertelorism	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
36915011	Orbital hypertelorism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
481196014	Hypertelorism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
751366013	Hypertelorism (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1222696011	Eyes widely set	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1222697019	Eyes wide apart	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1222698012	Orbital separation excessive	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module