osseous heteroplasia, progressive

Preferred Label : osseous heteroplasia, progressive;

Définition CISMeF : Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.;

MeSH note : mutation in Gsalpha isoform of GNAS gene;

MeSH synonym : osteoma cutis; ectopic ossification, familial; osteosis cutis; cutaneous ossification; osteodermia; progressive osseous heteroplasia;

Is substance : O;

Details

Origin ID

C562735;

UMLS CUI

C0334041;

Automatic exact mappings (from CISMeF team)
- Osteodermia [MedDRA LLT]
- Osteoma Cutis [NCIt concept]
- Osteoma cutis [ICD-11 More detail]
- Osteoma cutis [HPO term]
- Osteoma cutis [MedDRA Preferred Term]
- Osteoma cutis (disorder) [SNOMED CT concept]
- Osteoma cutis (morphologic abnormality) [SNOMED CT concept]
- hospital [CISMeF resources Type]
- osteoma cutis [SNOMED Notion]
- progressive osseous heteroplasia [DO Concept]
Currated CISMeF NLP mapping
- Osseous heteroplasia, progressive [OMIM Phenotype]
- Progressive Heterotopic Heteroplasia [NCIt concept]
- Progressive osseous heteroplasia [PASCAL descriptor]
- Progressive osseous heteroplasia [ICD-11 Subcategory]
- Progressive osseous heteroplasia [ORDO Disease]
- Progressive osseous heteroplasia (disorder) [SNOMED CT concept]
- progressive osseous heteroplasia [Disease (Nov.)]
DO Cross reference
- progressive osseous heteroplasia [DO Concept]
MeSH term(s) associated for indexing
- bone diseases, metabolic [MeSH Descriptor]
- ossification, heterotopic [MeSH Descriptor]
- skin diseases, genetic [MeSH Descriptor]
Record concept(s)
- osseous heteroplasia, progressive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osseous heteroplasia, progressive [OMIM Phenotype]
- Osteodermia [MedDRA LLT]
- Osteoma Cutis [NCIt concept]
- Osteoma cutis [MedDRA Preferred Term]
- Osteoma cutis [HPO term]
- Osteoma cutis (disorder) [SNOMED CT concept]
- Osteoma cutis (morphologic abnormality) [SNOMED CT concept]
- Progressive osseous heteroplasia [ORDO Disease]
- Progressive osseous heteroplasia [PASCAL descriptor]
- Progressive osseous heteroplasia (disorder) [SNOMED CT concept]
- osteoma cutis [SNOMED Notion]
- progressive osseous heteroplasia [Disease (Nov.)]
- progressive osseous heteroplasia [DO Concept]

Keyword's position in hierarchy(ies) :

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