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


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

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 SNOMED CT core module
3326190018 Hypertelorism with microtia and facial clefting syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3326197015 Bixler Christian Gorlin syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3326198013 HMC (hypertelorism, microtia, clefting) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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