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

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

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\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 (disorder)\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 (disorder)\Aplasia cutis congenita (disorder)\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 (disorder)\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 (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\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 (disorder)\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 (disorder)\Aplasia cutis congenita (disorder)\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 (disorder)\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 (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculocerebrocutaneous syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\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	Existential restriction modifier (core metadata concept)
Oculocerebrocutaneous syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculocerebrocutaneous syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocerebrocutaneous syndrome (disorder)	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocerebrocutaneous syndrome (disorder)	Associated with	Congenital malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculocerebrocutaneous syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocerebrocutaneous syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocerebrocutaneous syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocerebrocutaneous syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculocerebrocutaneous syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculocerebrocutaneous syndrome (disorder)	Associated morphology	Congenital partial absence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculocerebrocutaneous syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocerebrocutaneous syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocerebrocutaneous syndrome (disorder)	Finding site	Skin part (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocerebrocutaneous syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocerebrocutaneous syndrome (disorder)	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Microphthalmos due to Delleman syndrome (disorder)	Due to	True	Oculocerebrocutaneous syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets

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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
1771480012	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1771480012	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1782579015	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782579015	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects)	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1787795014	Delleman-Orthuys syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2647588016	Delleman-Oorthuys syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
3431421001000113	Okulo-zerebro-kutanes Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5263761000241116	syndrome oculo-cérébro-cutané	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5263761000241116	syndrome oculo-cérébro-cutané	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3431421001000113	Okulo-zerebro-kutanes Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module