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732247000: Cleft lip retinopathy 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
3464561015 Cleft lip retinopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464562010 Cleft lip retinopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464563017 Ausems Wittebol Post Hennekam syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403615011 An exceedingly rare association characterized by cleft lip and progressive retinopathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403616012 An exceedingly rare association characterised by cleft lip and progressive retinopathy. 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
Cleft lip retinopathy syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Cleft lip retinopathy syndrome (disorder) Is a Cleft lip true Inferred relationship Some
Cleft lip retinopathy syndrome (disorder) Is a Autosomal recessive retinitis pigmentosa true Inferred relationship Some
Cleft lip retinopathy syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Cleft lip retinopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Cleft lip retinopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Cleft lip retinopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Cleft lip retinopathy syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Cleft lip retinopathy syndrome (disorder) Finding site Structure of internal part of mouth false Inferred relationship Some 3
Cleft lip retinopathy syndrome (disorder) Associated morphology Dystrophy false Inferred relationship Some 4
Cleft lip retinopathy syndrome (disorder) Finding site Retinal structure false Inferred relationship Some 4
Cleft lip retinopathy syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
Cleft lip retinopathy syndrome (disorder) Finding site Lip structure false Inferred relationship Some 5
Cleft lip retinopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Cleft lip retinopathy syndrome (disorder) Finding site Lip structure true Inferred relationship Some 1
Cleft lip retinopathy syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Cleft lip retinopathy syndrome (disorder) Is a Congenital anomaly of retina true Inferred relationship Some
Cleft lip retinopathy syndrome (disorder) Finding site Retinal structure true Inferred relationship Some 2
Cleft lip retinopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cleft lip retinopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Cleft lip retinopathy syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
Cleft lip retinopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cleft lip retinopathy syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Cleft lip retinopathy syndrome (disorder) Finding site Bone structure of head false Inferred relationship Some 3
Cleft lip retinopathy syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 3
Cleft lip retinopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Cleft lip retinopathy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Description inactivation indicator reference set

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