66091009: congenitale ziekte (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital disease (disorder)	Is a	Disease	false	Inferred relationship	Some
Congenital disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital disease (disorder)	Is a	Disorder of foetus and/or newborn	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked corneal dermoid (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
X-linked neurodegenerative syndrome Bertini type (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Isolated generalized anhidrosis with normal sweat glands	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Non-syndromic mitochondrial sensorineural deafness (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Nemaline myopathy, early onset type	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital palsy of trochlear nerve (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital oculomotor nerve palsy (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital horizontal gaze palsy (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Isolated congenital horizontal gaze paresis	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital monocular elevator palsy (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital pseudopapilledema (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital insensitivity to pain with severe intellectual disability (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital axonal neuropathy with encephalopathy	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Disorder of lysosomal enzyme	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital cutaneous mastocytosis	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Cutis tricolor	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital benign giant pigmented nevus of skin (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Mongolian spot	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital neuromuscular junction disorder	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
congenitale trombocytopenie	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital hyperthyroidism (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital laryngotracheomalacia (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital restrictive cardiomyopathy (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Cleft jaw (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital hypergonadotropic hypogonadism (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
congenitale myotonie (aandoening)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital disorder of intestine (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital combined disorder of muscle and peripheral nerve (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital stenosing tenosynovitis (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital underdevelopment of extremity (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital angulation deformity of pelvis	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital aneurysm of membranous septum	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital angulation deformity of forearm	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital onychorrhexis (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital nephroblastoma (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital palmoplantar keratoderma (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital hydrothorax	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital hemiplegia (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital canities (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital angulation deformity of elbow	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital angulation deformity of hip	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital diarrhea (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital angulation deformity of lower leg	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital neurological disorder (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital deformity of lower leg (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital megalo-ureter	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital angulation deformity of thigh	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital longitudinal deformity of thigh (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital disorder of larynx (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital myopathy (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Cup ear deformity (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Ectopic lobe of lung (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Partial diphallus (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Complete diphallus (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Idiopathic congenital malformation of genital organs (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Aplasia of ulna (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Extrarenal pelvis	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Cleft jaw (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
congenitale spondylolyse (aandoening)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital skeletal dysplasia of tibia (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
syndroom van Wiedemann-Steiner	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital absence of lacrimal apparatus (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Single ray syndactyly (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Median facial cleft (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Aplasia of proximal femur (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital longitudinal deformity of lower leg (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Aplasia of radius (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital orthotopic ureterocele (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital nephropathy (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
congenitale deformiteit van bewegingsapparaat (aandoening)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
echt hermafroditisme	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Longitudinal deficiency of forearm	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Longitudinal deficiency of upper arm (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Deficiency of 11-beta hydroxysteroid dehydrogenase (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital malignant neoplasm	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital cutis verticis gyrata (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital midline nasal dermoid cyst (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
109766011	Congenital disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500308011	Congenital disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
805666017	Congenital disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1463921000146110	congenitale ziekte (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1463931000146112	congenitale ziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3596611000146118	aangeboren aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7729011000146119	Hiermee worden alle ziekten bedoeld die al bij de geboorte aanwezig zijn of in aanleg aanwezig zijn en pas later tot uiting komen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)