721084001: Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deaf blind hypopigmentation syndrome Yemenite type
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deaf blind hypopigmentation syndrome Yemenite type

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Deaf blind hypopigmentation syndrome Yemenite type
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deaf blind hypopigmentation syndrome Yemenite type

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite 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\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Developmental disorder\Developmental hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3323402016 Deaf blind hypopigmentation syndrome Yemenite type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3323403014 Deaf blind hypopigmentation syndrome Yemenite type en Synonym Active Only initial character case insensitive SNOMED CT core module

3323404015 Warburg Thomsen syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Congenital deficiency of pigment of skin	true	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	3
Deaf blind hypopigmentation syndrome Yemenite type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Deaf blind hypopigmentation syndrome Yemenite type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Deaf blind hypopigmentation syndrome Yemenite type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Deaf blind hypopigmentation syndrome Yemenite type	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	3
Deaf blind hypopigmentation syndrome Yemenite type	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	4
Deaf blind hypopigmentation syndrome Yemenite type	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	4
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Deaf blind hypopigmentation syndrome Yemenite type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Deaf blind hypopigmentation syndrome Yemenite type	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Deaf blind hypopigmentation syndrome Yemenite type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Deaf blind hypopigmentation syndrome Yemenite type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Deaf blind hypopigmentation syndrome Yemenite type	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
Deaf blind hypopigmentation syndrome Yemenite type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Deaf blind hypopigmentation syndrome Yemenite type	Associated morphology	Hypopigmentation	true	Inferred relationship	Existential restriction modifier	2
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Deaf blind hypopigmentation syndrome Yemenite type	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3
Deaf blind hypopigmentation syndrome Yemenite type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3323402016	Deaf blind hypopigmentation syndrome Yemenite type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3323403014	Deaf blind hypopigmentation syndrome Yemenite type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3323404015	Warburg Thomsen syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module