719271000: Progressive osseous heteroplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Muscle finding (finding)\Disorder of muscle\Degenerative disorder of muscle (disorder)\Calcification of muscle (disorder)\Muscular ossification\Progressive osseous heteroplasia (disorder)

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Progressive osseous heteroplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Ectopic bone tissue, congenital\Progressive osseous heteroplasia (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Calcification of muscle (disorder)\Muscular ossification\Progressive osseous heteroplasia (disorder)
\Disease\Degenerative disorder\Calcinosis\Calcification of muscle (disorder)\Muscular ossification\Progressive osseous heteroplasia (disorder)
\Disease\Degenerative disorder\Calcinosis\Heterotopic ossification\Muscular ossification\Progressive osseous heteroplasia (disorder)
\Disease\Degenerative disorder\Calcinosis\Heterotopic ossification\Ectopic bone tissue, congenital\Progressive osseous heteroplasia (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Calcification of muscle (disorder)\Muscular ossification\Progressive osseous heteroplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3313303014 Progressive osseous heteroplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3315787012 Familial ectopic ossification en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402043013 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, 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5402044019 Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterised 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, 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3313302016 Progressive osseous heteroplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3313302016 Progressive osseous heteroplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313303014 Progressive osseous heteroplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3313303014 Progressive osseous heteroplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3315787012 Familial ectopic ossification en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3315787012 Familial ectopic ossification en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5402043013 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, 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5402044019 Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterised 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, 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3424001001000114 Heteroplasie, progressive ossäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

926941000172113 HOP - hétéroplasie osseuse progressive fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1002941000172114 hétéroplasie osseuse progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

926941000172113 HOP - hétéroplasie osseuse progressive fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1002941000172114 hétéroplasie osseuse progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3424001001000114 Heteroplasie, progressive ossäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive osseous heteroplasia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive osseous heteroplasia (disorder)	Is a	Ectopic bone tissue, congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive osseous heteroplasia (disorder)	Is a	Muscular ossification	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive osseous heteroplasia (disorder)	Associated morphology	Osseous metaplasia (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive osseous heteroplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive osseous heteroplasia (disorder)	Finding site	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313302016	Progressive osseous heteroplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313303014	Progressive osseous heteroplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315787012	Familial ectopic ossification	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402043013	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, 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402044019	Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterised 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, 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313302016	Progressive osseous heteroplasia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313302016	Progressive osseous heteroplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313303014	Progressive osseous heteroplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313303014	Progressive osseous heteroplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315787012	Familial ectopic ossification	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315787012	Familial ectopic ossification	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402043013	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, 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402044019	Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterised 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, 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424001001000114	Heteroplasie, progressive ossäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
926941000172113	HOP - hétéroplasie osseuse progressive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002941000172114	hétéroplasie osseuse progressive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
926941000172113	HOP - hétéroplasie osseuse progressive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002941000172114	hétéroplasie osseuse progressive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3424001001000114	Heteroplasie, progressive ossäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module