237918004: Waardenburg syndrome type 3 (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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Klein-Waardenberg's syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Finding of head region\Finding of face\Eyelid finding\Lid margin finding\Medial canthus finding\Dystopia canthorum\Klein-Waardenberg's syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome

\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Klein-Waardenberg's syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Klein-Waardenberg's syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Klein-Waardenberg's syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Klein-Waardenberg's syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Waardenburg's syndrome\Klein-Waardenberg's syndrome

\Eye / vision finding\Eyelid finding\Lid margin finding\Medial canthus finding\Dystopia canthorum\Klein-Waardenberg's syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome

\Functional finding\Decline in functional status\Decreased hearing\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Klein-Waardenberg's syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Klein-Waardenberg's syndrome
\Functional finding\Hearing finding\Decreased hearing\Waardenburg's syndrome\Klein-Waardenberg's syndrome

\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Klein-Waardenberg's syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Klein-Waardenberg's syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg'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\Klein-Waardenberg's syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Klein-Waardenberg's syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Klein-Waardenberg's syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Klein-Waardenberg's syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Klein-Waardenberg's syndrome
\Disease\Congenital disease\Congenital hearing disorder\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\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\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Waardenburg's syndrome\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Dystopia canthorum\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Klein-Waardenberg's syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2840009017 Klein-Waardenberg syndrome en Synonym Active Case sensitive SNOMED CT core

356581013 Klein-Waardenberg's syndrome en Synonym Active Case sensitive SNOMED CT core

5143350012 Waardenburg syndrome type 3 (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5143351011 Waardenburg syndrome type 3 en Synonym Active Case sensitive SNOMED CT core

5143352016 Waardenburg syndrome type III en Synonym Active Case sensitive SNOMED CT core

5143353014 Waardenburg syndrome with limb anomalies en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Klein-Waardenberg's syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Waardenburg's syndrome	true	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Klein-Waardenberg's syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Klein-Waardenberg's syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	4
Klein-Waardenberg's syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Finding site	Limb structure	true	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Klein-Waardenberg's syndrome	Is a	Dystopia canthorum	true	Inferred relationship	Some
Klein-Waardenberg's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Klein-Waardenberg's syndrome	Finding site	Medial canthus structure	true	Inferred relationship	Some	5
Klein-Waardenberg's syndrome	Associated morphology	Lateral displacement	true	Inferred relationship	Some	5
Klein-Waardenberg's syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Klein-Waardenberg's syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Klein-Waardenberg's syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Finding site	Eye region structure	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Finding site	Eye structure	false	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Congenital deficiency of pigment of skin	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Congenital malformation syndromes involving limbs	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Finding site	Eye structure	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Klein-Waardenberg's syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Is a	Multisystem disorder W-X	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Albinism	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2840009017	Klein-Waardenberg syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
356581013	Klein-Waardenberg's syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5143350012	Waardenburg syndrome type 3 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5143351011	Waardenburg syndrome type 3	en	Synonym	Active	Case sensitive	SNOMED CT core
5143352016	Waardenburg syndrome type III	en	Synonym	Active	Case sensitive	SNOMED CT core
5143353014	Waardenburg syndrome with limb anomalies	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core