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


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3326189010 Hypertelorism with microtia and facial clefting syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3326190018 Hypertelorism with microtia and facial clefting syndrome en Synonym Active Case insensitive SNOMED CT core
3326197015 Bixler Christian Gorlin syndrome en Synonym Active Case sensitive SNOMED CT core
3326198013 HMC (hypertelorism, microtia, clefting) syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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