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717337001: Syndromic hypoplasia of orbital border (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3309097011 Syndromic hypoplasia of orbital border (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309098018 Syndromic orbital border hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309099014 Urrets Zavalia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309100018 Syndromic hypoplasia of orbital border en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309101019 Syndromic orbital border hypoplasia is a rare disorder observed in two families to date with characteristics of agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. 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
Syndromic hypoplasia of orbital border (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) Is a Congenital structural abnormality of orbit proper (disorder) true Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) Is a Orbital margin finding true Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) Occurrence Congenital true Inferred relationship Some 2
Syndromic hypoplasia of orbital border (disorder) Finding site Face structure true Inferred relationship Some 2
Syndromic hypoplasia of orbital border (disorder) Occurrence Congenital false Inferred relationship Some 3
Syndromic hypoplasia of orbital border (disorder) Associated morphology Hypoplasia false Inferred relationship Some 2
Syndromic hypoplasia of orbital border (disorder) Finding site Orbital margin structure false Inferred relationship Some 2
Syndromic hypoplasia of orbital border (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Syndromic hypoplasia of orbital border (disorder) Finding site Face structure false Inferred relationship Some 3
Syndromic hypoplasia of orbital border (disorder) Occurrence Congenital true Inferred relationship Some 1
Syndromic hypoplasia of orbital border (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Syndromic hypoplasia of orbital border (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Syndromic hypoplasia of orbital border (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Syndromic hypoplasia of orbital border (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Syndromic hypoplasia of orbital border (disorder) Finding site Orbital margin structure true Inferred relationship Some 1
Syndromic hypoplasia of orbital border (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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