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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


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 Some
Auricular abnormality, cleft lip, ocular abnormality syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital false Inferred relationship Some 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital false Inferred relationship Some 4
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Developmental anomaly false Inferred relationship Some 5
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital false Inferred relationship Some 5
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Developmental anomaly false Inferred relationship Some 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Structure of internal part of mouth false Inferred relationship Some 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Lip structure false Inferred relationship Some 4
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Auricular region structure false Inferred relationship Some 5
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Lip structure true Inferred relationship Some 1
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital true Inferred relationship Some 2
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence Congenital true Inferred relationship Some 1
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Auricular region structure true Inferred relationship Some 2
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Auricular abnormality, cleft lip, ocular abnormality syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Auricular abnormality, cleft lip, ocular abnormality syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site Bone structure of head false Inferred relationship Some 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

GB English

US English

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