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113331000146107: congenitale dysplasie (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)

\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2020. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital dysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Congenital dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Skeletal dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Multiple dysplasia syndrome	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Congenital ovarian dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Cerebellar cortical dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Hereditary mucoepithelial dysplasia (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Regional odontodysplasia	Is a	False	Congenital dysplasia (disorder)	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Is a	False	Congenital dysplasia (disorder)	Inferred relationship	Some
Hepatoportal microvascular dysplasia (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Dysplasia of eye (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Spinal cord dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Renal dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Dentate dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Cystic testicular dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Ectodermal dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Incomplete formation of bony cochlea	Is a	False	Congenital dysplasia (disorder)	Inferred relationship	Some
Congenital dysplasia of cardiac valve (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Congenital onychodysplasia of index fingers (disorder)	Is a	False	Congenital dysplasia (disorder)	Inferred relationship	Some
Disseminated superficial actinic porokeratosis	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	Is a	False	Congenital dysplasia (disorder)	Inferred relationship	Some
Caudal regression syndrome	Is a	False	Congenital dysplasia (disorder)	Inferred relationship	Some
Retinal dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Dysplasia of lung	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Arteriohepatic dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Dentin dysplasia, type II	Is a	False	Congenital dysplasia (disorder)	Inferred relationship	Some
Cortical dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Olive dysplasia	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Dentin dysplasia (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Congenital dysplasia of ear vestibule	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Congenital epithelial dysplasia of intestine (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Tubulinopathy-associated dysgyria (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some
Congenital dysplasia of right upper limb (disorder)	Is a	False	Congenital dysplasia (disorder)	Inferred relationship	Some
Congenital dysplasia of left upper limb (disorder)	Is a	False	Congenital dysplasia (disorder)	Inferred relationship	Some
Congenital dysplasia of limb (disorder)	Is a	True	Congenital dysplasia (disorder)	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
7830811000146117	Congenital dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7830821000146110	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8618301000146115	congenitale dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8618311000146118	congenitale dysplasie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)