237918004: Waardenburg syndrome type 3 (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 (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\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).\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\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).\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\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).\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\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).\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\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).\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\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).\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\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).\Waardenburg syndrome type 3 (disorder)

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Lid margin finding\Medial canthus finding (finding)\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)

\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Waardenburg syndrome type 3 (disorder)

\Eye / vision finding\Eyelid finding (finding)\Lid margin finding\Medial canthus finding (finding)\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Dystopia canthorum\Waardenburg syndrome type 3 (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Waardenburg syndrome type 3 (disorder)	Is a	Multisystem disorder W-X	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	Albinism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Waardenburg syndrome type 3 (disorder)	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Finding site	Eye region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3 (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	Site-specific disorder of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	Congenital deficiency of pigment of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	Congenital malformation syndromes involving limbs	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Finding site	Musculoskeletal structure of limb (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Finding site	Musculoskeletal structure of limb (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3 (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3 (disorder)	Finding site	Musculoskeletal structure of limb (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	Congenital anomaly of limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	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).	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Waardenburg syndrome type 3 (disorder)	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Waardenburg syndrome type 3 (disorder)	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3 (disorder)	Associated morphology	Hypopigmentation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3 (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3 (disorder)	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Waardenburg syndrome type 3 (disorder)	Is a	Dystopia canthorum	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Waardenburg syndrome type 3 (disorder)	Finding site	Medial canthus structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Waardenburg syndrome type 3 (disorder)	Associated morphology	Lateral displacement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Waardenburg syndrome type 3 (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Waardenburg syndrome type 3 (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

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
356581013	Klein-Waardenberg's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2840009017	Klein-Waardenberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143350012	Waardenburg syndrome type 3 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143351011	Waardenburg syndrome type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143352016	Waardenburg syndrome type III	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143353014	Waardenburg syndrome with limb anomalies	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143364012	A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356581013	Klein-Waardenberg's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626718019	Klein-Waardenberg's syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626718019	Klein-Waardenberg's syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2840009017	Klein-Waardenberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143350012	Waardenburg syndrome type 3 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143351011	Waardenburg syndrome type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143352016	Waardenburg syndrome type III	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143353014	Waardenburg syndrome with limb anomalies	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143364012	A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
545501000274110	Klein-Waardenburg-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
577431000274112	Waardenburg-Syndrom Typ 3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
80491000077118	syndrome de Waardenburg-Klein	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
80491000077118	syndrome de Waardenburg-Klein	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
545501000274110	Klein-Waardenburg-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
577431000274112	Waardenburg-Syndrom Typ 3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module