403554008: Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)

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

\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Finding of body region\Skin finding\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Finding of body region\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Finding of body region\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Finding of body region\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Finding by site\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)

\Disease\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Disease\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Disease\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Disease\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Disease\Disorder by body site (disorder)\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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (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)\Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (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	Reference Sets
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	GB English: Preferred (foundation metadata concept)
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	GB English: Preferred (foundation metadata concept)
2647588016	Delleman-Oorthuys syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
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)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Is a	Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)	true	Inferred relationship	Some
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Associated with	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some	2
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Associated morphology	medfödd partiell avsaknad	false	Inferred relationship	Some	2
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Finding site	Skin part	true	Inferred relationship	Some	1
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (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	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	Inferred relationship	Some	2

Reference Sets

GB English

US English

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