403554008: Oculocerebrocutaneous syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

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

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)

\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\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:

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	medfödd partiell avsaknad	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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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
2066191000052113	okulocerebrokutant syndrom (aplasia cutis, hudflikar, ögon- och hjärndefekter)	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)