Waardenburg-Shah syndrome
Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities; see this term) and Hirschsprung disease (see this term)
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Waardenburg-Shah syndrome
Summary
Waardenburg-Shah syndrome is a class of disease[1].
Key Facts
- Waardenburg-Shah syndrome's instance of is recorded as class of disease[2].
- Waardenburg-Shah syndrome's subclass of is recorded as Waardenburg's syndrome[3].
- Waardenburg-Shah syndrome's Orphanet ID is recorded as 897[4].
- Waardenburg-Shah syndrome's genetic association is recorded as SOX10[5].
- Waardenburg-Shah syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_897[6].
- Waardenburg-Shah syndrome's UMLS CUI is recorded as C3266898[7].
- Waardenburg-Shah syndrome's UMLS CUI is recorded as C1848519[8].
- Waardenburg-Shah syndrome's ICD-10-CM is recorded as Q87.8[9].
- Waardenburg-Shah syndrome's GARD rare disease ID is recorded as 5524[10].
- Waardenburg-Shah syndrome's Mondo ID is recorded as MONDO_0019518[11].
- Waardenburg-Shah syndrome's ICD-11 ID is recorded as LD2H.3[12].
- Waardenburg-Shah syndrome's ICD-11 ID is recorded as 1420151003[13].
- Waardenburg-Shah syndrome's ICD-11 ID is recorded as 1163754278[14].