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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/721836009
http://purl.bioontology.org/ontology/SNOMEDCT/721836009
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|---|---|
| Preferred Name | Hypertelorism with microtia and facial clefting syndrome |
| Definitions |
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterised by the combination of hypertelorism, cleft lip and palate and microtia.
A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance.
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.
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| Synonyms |
HMC (hypertelorism, microtia, clefting) syndrome
Hypertelorism with microtia and facial clefting syndrome (disorder)
Bixler Christian Gorlin syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterised by the combination of hypertelorism, cleft lip and palate and microtia. A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance. 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. |
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| altLabel |
HMC (hypertelorism, microtia, clefting) syndrome
Hypertelorism with microtia and facial clefting syndrome (disorder)
Bixler Christian Gorlin syndrome
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| prefLabel | Hypertelorism with microtia and facial clefting syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 721836009
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| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| type | |
| Subset member | 6011000124106~MAPADVICE~ALWAYS Q17.2
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
900000000000497000~MAPTARGET~XUuaP
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q75.2
6011000124106~MAPADVICE~ALWAYS Q75.2
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q17.2
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPADVICE~ALWAYS Q18.8
447562003~MAPTARGET~Q87.0
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q18.8
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUuaP
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| Occurs in | |
| cui | C0220742
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| Has associated morphology |
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| No notes to display |