716174001: Oculocerebral hypopigmentation syndrome of Preus type (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Developmental disorder\Developmental hereditary disorder\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Oculocerebral hypopigmentation syndrome of Preus type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Oculocerebral hypopigmentation syndrome of Preus type

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304970016 Oculocerebral hypopigmentation syndrome of Preus type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3304971017 Oculocerebral hypopigmentation syndrome of Preus type en Synonym Active Initial character case insensitive SNOMED CT core

3304972012 Oculocerebral hypopigmentation syndrome of Preus en Synonym Active Initial character case insensitive SNOMED CT core

3304973019 A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. en Definition Active Case sensitive SNOMED CT core

3304974013 A rare congenital syndrome characterised by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anaemia, and/or nystagmus. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocerebral hypopigmentation syndrome of Preus type	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculocerebral hypopigmentation syndrome of Preus type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Oculocerebral hypopigmentation syndrome of Preus type	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Oculocerebral hypopigmentation syndrome of Preus type	Finding site	Hair structure	true	Inferred relationship	Some	1
Oculocerebral hypopigmentation syndrome of Preus type	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
Oculocerebral hypopigmentation syndrome of Preus type	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	1
Oculocerebral hypopigmentation syndrome of Preus type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type	Is a	Congenital deficiency of pigment of skin	true	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	2
Oculocerebral hypopigmentation syndrome of Preus type	Occurrence	Congenital	false	Inferred relationship	Some	2
Oculocerebral hypopigmentation syndrome of Preus type	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	3
Oculocerebral hypopigmentation syndrome of Preus type	Occurrence	Congenital	false	Inferred relationship	Some	3
Oculocerebral hypopigmentation syndrome of Preus type	Finding site	Skin structure	false	Inferred relationship	Some	2
Oculocerebral hypopigmentation syndrome of Preus type	Finding site	Hair structure	false	Inferred relationship	Some	3
Oculocerebral hypopigmentation syndrome of Preus type	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304970016	Oculocerebral hypopigmentation syndrome of Preus type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3304971017	Oculocerebral hypopigmentation syndrome of Preus type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3304972012	Oculocerebral hypopigmentation syndrome of Preus	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3304973019	A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.	en	Definition	Active	Case sensitive	SNOMED CT core
3304974013	A rare congenital syndrome characterised by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anaemia, and/or nystagmus.	en	Definition	Active	Case sensitive	SNOMED CT core