721084001: Deaf blind hypopigmentation syndrome Yemenite type (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (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\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)

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

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

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

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

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Deaf blind hypopigmentation syndrome Yemenite type (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\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (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\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type (disorder)
\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 (disorder)

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

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 (core metadata concept) SNOMED CT core

3323403014 Deaf blind hypopigmentation syndrome Yemenite type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3323404015 Warburg Thomsen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402587014 Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402588016 Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterised by cutaneous pigmentation anomalies, ocular disorders and hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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 (core metadata concept)	SNOMED CT core
3323403014	Deaf blind hypopigmentation syndrome Yemenite type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323404015	Warburg Thomsen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402587014	Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402588016	Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterised by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core