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725149008: Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498233011 Auricular abnormality, cleft lip, ocular abnormality syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498234017 Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403422011 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403423018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498233011 Auricular abnormality, cleft lip, ocular abnormality syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498234017 Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499909016 The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403422011 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403423018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439811001000118 Ohrenanomalien - Lippen-Kiefer-Gaumenspalte - Augenanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787261000241112 syndrome d'anomalies de l'oreille, fente labiale ou labiopalatine et anomalies oculaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787261000241112 syndrome d'anomalies de l'oreille, fente labiale ou labiopalatine et anomalies oculaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439811001000118 Ohrenanomalien - Lippen-Kiefer-Gaumenspalte - Augenanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Auricular abnormality, cleft lip, ocular abnormality syndrome Is a Cleft lip true Inferred relationship Existential restriction modifier (core metadata concept)
Auricular abnormality, cleft lip, ocular abnormality syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Structure of internal part of mouth false Inferred relationship Existential restriction modifier (core metadata concept) 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Lip structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Auricular region structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Lip structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Auricular region structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Auricular abnormality, cleft lip, ocular abnormality syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Auricular abnormality, cleft lip, ocular abnormality syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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