OMOP Concept 377252
Neurofibromatosis type 1
StandardConditionSNOMED92824003Disorder
Maps from
9
Descendants
9
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
9 source codes normalize to Neurofibromatosis type 1 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 115278 | Neurofibromatosis, type 1 (Von Recklinghausen's disease) | Non-standard |
| ICD10CM | Q85.01 | Neurofibromatosis, type 1 | Non-standard |
| ICD9CM | 237.71 | Neurofibromatosis, type 1 [von recklinghausen's disease] | Non-standard |
| MeSH | D009456 | Neurofibromatosis 1 | Non-standard |
| Nebraska Lexicon | 715432009 | Multiple non-ossifying fibromatosis | Non-standard |
| Nebraska Lexicon | 92824003 | NF1 - Neurofibromatosis type 1 | Non-standard |
| Read | B927.00 | Neurofibromatosis - Von Recklinghausen's disease | Non-standard |
| Read | B927.11 | Von Recklinghausen's disease | Non-standard |
| Read | B927.12 | Neurofibromatosis type 1 | Non-standard |
Synonyms
Alternative names recorded for Neurofibromatosis type 1 across source vocabularies.
- enfermedad de von Recklinghausen
- fibromatosis múltiple no osificante
- Multiple non-ossifying fibromatosis
- Neurofibromatosis 1
- Neurofibromatosis, peripheral type
- neurofibromatosis tipo 1
- neurofibromatosis tipo 1 (trastorno)
- neurofibromatosis, tipo periférico
- Neurofibromatosis type 1 (disorder)
- NF1 - Neurofibromatosis type 1
- Von Recklinghausen disease
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(46)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Hereditary disorder of nervous system
- 1Hereditary disorder of the integument
- 1Neurofibromatosis syndrome
- 2Autosomal hereditary disorder
- 2Disorder of integument
- 2Disorder of nervous system
- 2Hereditary disorder by system
- 2Neoplasm of nerve sheath origin
- 2Neoplasm of uncertain behavior of nervous system
- 2Neoplasm of uncertain behavior of skin
- 2Neurocutaneous syndrome
- 2Skin tumor of neural origin
- 3Congenital disease
- 3Disorder involving the integument of fetus OR newborn
- 3Disorder of body system
- 3Hereditary disease
- 3Integumentary system finding
- 3Neoplasm of nervous system
- 3Neoplasm of skin
- 3Neoplasm of uncertain behavior of soft tissues
- 3Neoplastic disease
- 3Neoplastic disease of uncertain behavior
- 4Clinical finding
- 4Disease
Narrower concepts
(9)Included automatically when you query with descendants.
- 117q11 deletion syndrome
- 1Axillary freckling due to neurofibromatosis
- 1Elephantiasis neurofibromatosa
- 1Familial spinal neurofibromatosis
- 1Mosaic neurofibromatosis type 1
- 1Multiple café-au-lait macules due to neurofibromatosis
- 1Multiple neurofibromas in neurofibromatosis
- 1Neurofibromatosis Noonan syndrome
- 1Segmental neurofibromatosis type 1
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