403554008: Oculocerebrocutaneous syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

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

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

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

1771480012 Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder) en Fully specified name Inactive Entire term case insensitive SNOMED CT core module
1782579015 Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) en Synonym Inactive Entire term case insensitive SNOMED CT core module
1787795014 Delleman-Orthuys syndrome en Synonym Inactive Only initial character case insensitive SNOMED CT core module
2647588016 Delleman-Oorthuys syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
4579830015 Oculocerebrocutaneous syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4579831016 Oculocerebrocutaneous syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Microphthalmos due to Delleman syndrome	Due to	True	Oculocerebrocutaneous syndrome	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1771480012	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	en	Fully specified name	Inactive	Entire term case insensitive	SNOMED CT core module
1782579015	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects)	en	Synonym	Inactive	Entire term case insensitive	SNOMED CT core module
1787795014	Delleman-Orthuys syndrome	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
2647588016	Delleman-Oorthuys syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4579830015	Oculocerebrocutaneous syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4579831016	Oculocerebrocutaneous syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module