1010636000: Waardenburg syndrome type 2 (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)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)

\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)

\fynd som rör öra och hörsel\Disorder of auditory system\Auditory system hereditary disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Disorder of ear\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\fynd som rör öra och hörsel\Ear finding\Disorder of ear\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)

\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\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\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Ear, nose and throat disorder\Disorder of ear\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Congenital disease (disorder)\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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)\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (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\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg syndrome type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4213386014 Waardenburg syndrome type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4213387017 Waardenburg syndrome type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4836991000052113 Waardenburgs syndrom, typ 2 sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Waardenburg syndrome type 2 (disorder)	Is a	Waardenburg's syndrome	true	Inferred relationship	Some
Waardenburg syndrome type 2 (disorder)	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	1
Waardenburg syndrome type 2 (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Waardenburg syndrome type 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Waardenburg syndrome type 2 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Waardenburg syndrome type 2 (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	2
Waardenburg syndrome type 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Waardenburg syndrome type 2 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Waardenburg syndrome type 2 (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ocular albinism with congenital sensorineural deafness	Is a	True	Waardenburg syndrome type 2 (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4213386014	Waardenburg syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4213387017	Waardenburg syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4836991000052113	Waardenburgs syndrom, typ 2	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)