403554008: Oculocerebrocutaneous syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\...

\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)

\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)

\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocerebrocutaneous syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	morphologie associée (attribut)	Aplasia	true	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	est un(e) (attribut)	Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)	true	Inferred relationship	Some
Oculocerebrocutaneous syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Oculocerebrocutaneous syndrome (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	associé à (attribut)	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some	2
Oculocerebrocutaneous syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Oculocerebrocutaneous syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Oculocerebrocutaneous syndrome (disorder)	morphologie associée (attribut)	Congenital partial absence	false	Inferred relationship	Some	2
Oculocerebrocutaneous syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	localisation d'une constatation (attribut)	Skin part	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

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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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