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403554008: Oculocerebrocutaneous syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2647588016 Delleman-Oorthuys syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4579830015 Oculocerebrocutaneous syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4579831016 Oculocerebrocutaneous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oculocerebrocutaneous syndrome (disorder) Is a Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) true Inferred relationship Some
Oculocerebrocutaneous syndrome (disorder) Occurrence Congenital false Inferred relationship Some
Oculocerebrocutaneous syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Finding site Structure of skin region false Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Associated with Congenital malformation syndrome (disorder) true Inferred relationship Some 2
Oculocerebrocutaneous syndrome (disorder) Finding site Skin structure false Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Finding site Skin structure false Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Oculocerebrocutaneous syndrome (disorder) Finding site Skin structure false Inferred relationship Some 2
Oculocerebrocutaneous syndrome (disorder) Associated morphology Congenital partial absence false Inferred relationship Some 2
Oculocerebrocutaneous syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Finding site Skin part true Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Associated morphology Aplasia true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Microphthalmos due to Delleman syndrome (disorder) Due to True Oculocerebrocutaneous syndrome (disorder) Inferred relationship Some 2

Reference Sets

GB English

US English

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