719271000: Progressive osseous heteroplasia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Muscle finding\Myopathy\Degenerative disorder of muscle\Calcification of muscle\Muscular ossification\Progressive osseous heteroplasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Progressive osseous heteroplasia
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Calcification of muscle\Muscular ossification\Progressive osseous heteroplasia
• \Disease\Degenerative disorder\Calcinosis\Calcification of muscle\Muscular ossification\Progressive osseous heteroplasia
• \Disease\Degenerative disorder\Calcinosis\Heterotopic ossification\Muscular ossification\Progressive osseous heteroplasia
• \Disease\Degenerative disorder\Calcinosis\Heterotopic ossification\Ectopic bone tissue, congenital\Progressive osseous heteroplasia
• \Disease\Myopathy\Degenerative disorder of muscle\Calcification of muscle\Muscular ossification\Progressive osseous heteroplasia
• \Disease\Congenital disease\Ectopic bone tissue, congenital\Progressive osseous heteroplasia

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313302016	Progressive osseous heteroplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313303014	Progressive osseous heteroplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3315787012	Familial ectopic ossification	en	Synonym	Active	Case insensitive	SNOMED CT core
3315788019	Progressive osseous heteroplasia (POH) is a rare genetic bone disorder with clinical characteristics of 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 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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start