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47434006: Waardenburg's syndrome (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
\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
\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
\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
\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
\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
\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

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

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

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

\Congenital hearing disorder\Waardenburg's syndrome

\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

79083016 Waardenburg's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

784892016 Waardenburg's syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2841707016 Waardenburg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3657916012 Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3777420016 Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

2598961000052119 Waardenburgs syndrom 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's syndrome	Is a	Multisystem disorder W-X	false	Inferred relationship	Some
Waardenburg's syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some
Waardenburg's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Waardenburg's syndrome	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Waardenburg's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Waardenburg's syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Waardenburg's syndrome	Finding site	Face structure	false	Inferred relationship	Some	1
Waardenburg's syndrome	Finding site	Ear structure	true	Inferred relationship	Some	2
Waardenburg's syndrome	Is a	Congenital deficiency of pigment of skin	true	Inferred relationship	Some
Waardenburg's syndrome	Is a	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Waardenburg's syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Waardenburg's syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Waardenburg's syndrome	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Waardenburg's syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1
Waardenburg's syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Waardenburg's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Waardenburg's syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Waardenburg's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Waardenburg's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Waardenburg's syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	1
Waardenburg's syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Waardenburg's syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Waardenburg's syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Waardenburg's syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Is a	True	Waardenburg's syndrome	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	True	Waardenburg's syndrome	Inferred relationship	Some
Waardenburg syndrome type 3 (disorder)	Is a	True	Waardenburg's syndrome	Inferred relationship	Some
Waardenburg syndrome type 1 (disorder)	Is a	True	Waardenburg's syndrome	Inferred relationship	Some
Waardenburg syndrome type 2 (disorder)	Is a	True	Waardenburg's syndrome	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
79083016	Waardenburg's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
784892016	Waardenburg's syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2841707016	Waardenburg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657916012	Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777420016	Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2598961000052119	Waardenburgs syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)