Other phakomatoses, not elsewhere classified

Preferred Label : Other phakomatoses, not elsewhere classified;

Inclusion CIM-10 : von Hippel-Lindau syndrome; Sturge-Weber(-Dimitri) syndrome; Peutz-Jeghers Syndrome;

ICD-10 exclusion note : Meckel-Gruber syndrome (Q61.9);

Diag associé à un acte (%) : 88.2;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q858;

UMLS CUI

C0869082;

Automatic exact mappings (from CISMeF team)
- Other phakomatoses, not elsewhere classified [ICD-11 More detail]
- Peutz-Jeghers Syndrome [NCIt concept]
- Peutz-Jeghers syndrome [MeSH concept]
- Peutz-Jeghers syndrome [ORDO Disease]
- Peutz-Jeghers syndrome [DO Concept]
- Peutz-Jeghers syndrome [MedDRA Preferred Term]
- Peutz-Jeghers syndrome [PASCAL descriptor]
- Peutz-Jeghers syndrome (disorder) [SNOMED CT concept]
- Peutz-jeghers syndrome [OMIM Phenotype]
- Von Hippel Lindau Syndrome [NCIt concept]
- Von Hippel-Lindau disease [ORDO Disease]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- Von hippel-lindau syndrome [OMIM Phenotype]
- peutz-jeghers syndrome [MeSH Descriptor]
- von Hippel-Lindau disease [DO Concept]
DO Cross reference
- Peutz-Jeghers syndrome [DO Concept]
- Sturge-Weber syndrome [DO Concept]
- von Hippel-Lindau disease [DO Concept]
Excluded by
- Other congenital malformations of skin [ICD-10 category]
- Other disorders of pigmentation [ICD-10 category]
ICD-10 exclusion(s)
- Cystic kidney disease, unspecified [ICD-10 Sub-category]
Orphanet concepts
- Cowden syndrome [ORDO Disease]
- Cystic hamartoma of lung and kidney [ORDO Disease]
- Epidermal nevus syndrome [ORDO Disease]
- Linear nevus sebaceus syndrome [ORDO Disease]
- Peutz-Jeghers syndrome [ORDO Disease]
- Phakomatosis cesioflammea [ORDO Disease]
- Phakomatosis cesiomarmorata [ORDO Disease]
- Phakomatosis pigmentokeratotica [ORDO Disease]
- Phakomatosis pigmentovascularis [ORDO Disease]
- Phakomatosis spilorosea [ORDO Disease]
- Sturge-Weber syndrome [ORDO Disease]
- Von Hippel-Lindau disease [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to BTNT
- Peutz-Jeghers syndrome [ICD-11 Subcategory]
- Von Hippel-Lindau disease [ICD-11 More detail]
- von Hippel-Lindau disease [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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