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783723003: Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3759948017 Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759949013 Mixed sclerosing bone dystrophy with extra-skeletal manifestation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759951012 A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo/laryngomalacia, and astigmatic myopia are also associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3759948017 Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759949013 Mixed sclerosing bone dystrophy with extra-skeletal manifestation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759951012 A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo/laryngomalacia, and astigmatic myopia are also associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452921001000112 Gemischte sklerosierende Knochendystrophie mit extraskelettalen Manifestationen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591841000241115 dystrophie osseuse sclérosante mixte avec manifestation extrasquelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591841000241115 dystrophie osseuse sclérosante mixte avec manifestation extrasquelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452921001000112 Gemischte sklerosierende Knochendystrophie mit extraskelettalen Manifestationen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Is a Dysplasia with increased bone density true Inferred relationship Existential restriction modifier (core metadata concept)
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Interprets Bone density scan true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Finding site Skeletal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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