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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
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
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
5885781000241116 syndrome d'Ausems-Wittebol Post-Hennekam fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885791000241119 syndrome de fente labiale et rétinopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602991000274115 Ausems-Wittebol-Post-Hennekam-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3413771001000114 Lippenspalte-Retinopathie-Syndrom 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
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Is a Cleft lip true Inferred relationship Some
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Is a Autosomal recessive retinitis pigmentosa true Inferred relationship Some
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Is a Digestive system hereditary disorder true Inferred relationship Some
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Occurrence Congenital false Inferred relationship Some 3
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Occurrence Congenital false Inferred relationship Some 4
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Occurrence Congenital false Inferred relationship Some 5
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Associated morphology anomalie du développement false Inferred relationship Some 3
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Finding site Structure of internal part of mouth false Inferred relationship Some 3
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Associated morphology Dystrophy false Inferred relationship Some 4
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Finding site Retinal structure false Inferred relationship Some 4
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Finding site Lip structure false Inferred relationship Some 5
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Occurrence Congenital true Inferred relationship Some 2
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Finding site Lip structure true Inferred relationship Some 1
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Is a Congenital anomaly of retina true Inferred relationship Some
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Finding site Retinal structure true Inferred relationship Some 2
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Occurrence Congenital true Inferred relationship Some 1
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Associated morphology Dystrophy true Inferred relationship Some 2
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Finding site Bone structure of head false Inferred relationship Some 3
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 3
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
An exceedingly rare association characterized by cleft lip and progressive retinopathy. 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)

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