22006008: Hypertelorism (disorder)

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

\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism
\Head finding (finding)\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)\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)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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 structural abnormality of orbit proper (disorder)	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	anomalie congénitale	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	anomalie congénitale	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Hypertelorism	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	anomalie congénitale	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	anomalie congénitale	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	anomalie du développement	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	anomalie du développement	false	Inferred relationship	Some	2
Hypertelorism	Occurrence	Congenital	false	Inferred relationship	Some	2
Hypertelorism	Associated morphology	Morphologically abnormal structure	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-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	Some
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	False	Hypertelorism	Inferred relationship	Some
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.	Is a	True	Hypertelorism	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976.	Is a	True	Hypertelorism	Inferred relationship	Some
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.	Is a	True	Hypertelorism	Inferred relationship	Some
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.	Is a	True	Hypertelorism	Inferred relationship	Some
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma.	Is a	True	Hypertelorism	Inferred relationship	Some
A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.	Is a	True	Hypertelorism	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.	Is a	True	Hypertelorism	Inferred relationship	Some

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
4460831000241118	hypertélorisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module