721836009: Hypertelorism with microtia and facial clefting syndrome (disorder)

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Hypertelorism	true	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Microtia	true	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Cleft palate with cleft lip	true	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Hypertelorism with microtia and facial clefting syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Hypertelorism with microtia and facial clefting syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	7
Hypertelorism with microtia and facial clefting syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	Palatal structure	false	Inferred relationship	Some	7
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	4
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	Lip structure	false	Inferred relationship	Some	4
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	Sphenoid bone structure	false	Inferred relationship	Some	5
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	Sphenoid bone structure	true	Inferred relationship	Some	4
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	6
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	External ear structure	false	Inferred relationship	Some	6
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	1
Hypertelorism with microtia and facial clefting syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	2
Hypertelorism with microtia and facial clefting syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	Palatal structure	true	Inferred relationship	Some	2
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	Palatal structure	false	Inferred relationship	Some	1
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	Lip structure	false	Inferred relationship	Some	2
Hypertelorism with microtia and facial clefting syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hypertelorism with microtia and facial clefting syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Hypertelorism with microtia and facial clefting syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Hypertelorism with microtia and facial clefting syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Hypertelorism with microtia and facial clefting syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	3
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	Lip structure	true	Inferred relationship	Some	3
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	External ear structure	true	Inferred relationship	Some	1
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	5
Hypertelorism with microtia and facial clefting syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	5
Hypertelorism with microtia and facial clefting syndrome (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Some	5
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3326189010	Hypertelorism with microtia and facial clefting syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326190018	Hypertelorism with microtia and facial clefting syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326197015	Bixler Christian Gorlin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326198013	HMC (hypertelorism, microtia, clefting) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326196012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12721971000172115	syndrome de Bixler-Christian-Gorlin	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12721981000172117	syndrome d'hypertélorisme, microtie et fente faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12721991000172119	syndrome HMC (hypertélorisme, microtie et fente faciale)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5243431000172117	HMC-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5243441000172112	syndroom van hypertelorisme, microtie en aangezichtsspleet	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5243451000172114	syndroom van Bixler-Christian-Gorlin	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)