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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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) survenue (attribut) congénital 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) morphologie associée (attribut) structure anormale sur le plan morphologique 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) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) true Inferred relationship Some 3
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) oreille externe (structure corporelle) true Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) 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) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 5
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) Hypertelorism true Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) microtie (trouble) true Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) Cleft palate with cleft lip true Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Hypertelorism with microtia and facial clefting syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Hypertelorism with microtia and facial clefting syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 7
Hypertelorism with microtia and facial clefting syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 7
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 4
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) false Inferred relationship Some 4
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) structure de l'os sphénoïde (structure corporelle) false Inferred relationship Some 5
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) structure de l'os sphénoïde (structure corporelle) true Inferred relationship Some 4
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 6
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) oreille externe (structure corporelle) false Inferred relationship Some 6
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Hypertelorism with microtia and facial clefting syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 2
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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