82852009: geslachtsgebonden hereditaire aandoening (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

137435012 Sex-linked hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

824362013 Sex-linked hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6147741000146116 geslachtsgebonden hereditaire aandoening nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6147751000146118 geslachtsgebonden hereditaire aandoening (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6147761000146115 geslachtsgebonden erfelijke aandoening nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6147771000146114 geslachtsgebonden genetische aandoening nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10652901000146112 geslachtsgebonden aandoening nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10652891000146111 Aandoeningen die worden veroorzaakt door een afwijkend gen op een van de geslachtschromosomen. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sex-linked hereditary disorder	Is a	Hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked hereditary disease	Is a	True	Sex-linked hereditary disorder	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Is a	False	Sex-linked hereditary disorder	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	Is a	True	Sex-linked hereditary disorder	Inferred relationship	Some
Opitz-Frias syndrome	Is a	True	Sex-linked hereditary disorder	Inferred relationship	Some
Juvenile retinoschisis	Is a	False	Sex-linked hereditary disorder	Inferred relationship	Some
Familial chondromalacia of patella (disorder)	Is a	False	Sex-linked hereditary disorder	Inferred relationship	Some
Macular retinoschisis	Is a	True	Sex-linked hereditary disorder	Inferred relationship	Some

Reference Sets