Osteosclerosis with ichthyosis and premature ovarian failure

Preferred Label : Osteosclerosis with ichthyosis and premature ovarian failure;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure;

Prefixed ID : %609993;

Details

Origin ID

609993;

UMLS CUI

C1864942;

Automatic exact mappings (from CISMeF team)
- Osteosclerosis - ichthyosis - premature ovarian failure [ICD-11 More detail]
Currated CISMeF NLP mapping
- Osteosclerosis with ichthyosis and premature ovarian failure [MeSH concept]
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome [ORDO Disease]
- Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder) [SNOMED CT concept]
- osteosclerosis with ichthyosis and premature ovarian failure [MeSH Supplementary Concept]
HPO term(s)
- Hypoplasia of the ovary [HPO term]
- Ichthyosis [HPO term]
- Lower limb pain [HPO term]
- Osteosclerosis of the base of the skull [HPO term]
- Premature ovarian insufficiency [HPO term]
- Subperiosteal bone formation [HPO term]
ORDO concept(s)
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteosclerosis with ichthyosis and premature ovarian failure [MeSH concept]
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome [ORDO Disease]
- osteosclerosis with ichthyosis and premature ovarian failure [MeSH Supplementary Concept]

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