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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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\Anomaly of eye\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
• \Disorder of head\Disorder of eye region\Disorder of eye\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\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\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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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\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\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Deaf blind hypopigmentation syndrome Yemenite type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
• \Disease\Congenital disease\Congenital anomaly\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\Skin hypopigmented\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\Skin hypopigmented\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Deaf blind hypopigmentation syndrome Yemenite type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Deaf blind hypopigmentation syndrome Yemenite type
• \Disease\Developmental disorder\Congenital anomaly\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, Primitive. 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	Initial character case insensitive	SNOMED CT core
3323403014	Deaf blind hypopigmentation syndrome Yemenite type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323404015	Warburg Thomsen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323405019	An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss. The syndrome was described in 1990 in two patients from the same Yemenite family. A brother and sister were described as having cutaneous patchy hypo and hyperpigmentation on the trunk and extremities, grey hair, white brows and lashes. Ocular manifestations were microcornea, coloboma and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3777415016	An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss. The syndrome was described in 1990 in two patients from the same Yemenite family. A brother and sister were described as having cutaneous patchy hypo and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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