702410002: Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Baraitser-Winter syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2994992011 Cerebro-frontofacial syndrome, type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995020018 Fryns-Aftimos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995240015 Baraitser-Winter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995644015 Iris coloboma with ptosis, hypertelorism, and mental retardation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995891012 Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3688111000052119 Baraitser-Winters syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Baraitser-Winter syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Baraitser-Winter syndrome	Is a	multisystemsjukdom	false	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set