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
Congenital plasminogen activator inhibitor deficiency type 1 (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital deficiency of alpha-fetoprotein (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Combined pituitary hormone deficiency genetic form (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Chronic diarrhea due to glucoamylase deficiency (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Longitudinal deficiency of part of limb (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
X-linked endothelial dystrophy of cornea (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital analbuminemia (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital hepatic fibrosis	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Anemia following fetal blood loss	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital folate malabsorption anaemia	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital transferrin deficiency	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital deficiency of intrinsic factor	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Biermer's congenital pernicious anaemia	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Autosomal recessive sideroblastic anemia (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital diverticulitis of small intestine (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Median nodule of upper lip (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital lethal erythroderma (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital chalasia of esophagus (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital cyst of aryepiglottic fold (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital hypogonadotropic hypogonadism (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital atrophy of optic nerve (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Nephrogenic syndrome of inappropriate antidiuresis (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Pigmented paravenous retinochoroidal atrophy (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Myotonia congenita (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital syringomyelia (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Pure mitochondrial myopathy (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital secondary hydronephrosis (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital dacryocele (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital malposition of eyelid (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Dystopia canthorum (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
pseudoziekte van von Willebrand (aandoening)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Asexual dwarfism	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Platelet storage pool defect	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Hereditary anetoderma (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital cyst of orbit (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Hereditary disorder of endocrine system (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital hydrothorax (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Progressive supranuclear palsy	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital porencephalic cyst (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of vagina	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of vulva	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of mother complicating pregnancy (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Neonatal intestinal perforation co-occurrent and due to in utero intraluminal obstruction (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital thrombocytopenia (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital cardiovascular disorder (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital keratoderma	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Keratosis pilaris with ichthyosis and deafness	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital ichthyosiform erythroderma	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Palmoplantar keratoderma Nagashima type (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Autosomal dominant congenital benign spinal muscular atrophy	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 4 (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Combined pancreatic lipase and colipase deficiency	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital trigeminal anesthesia (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Spectrin-associated autosomal recessive cerebellar ataxia	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Familial nasal acilia (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Hypermethioninemia due to deficiency of glycine N-methyltransferase	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Erythema palmare hereditarium	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Myosclerosis (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Action myoclonus renal failure syndrome	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Familial focal epilepsy with variable foci	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Autosomal dominant slowed nerve conduction velocity	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Fundus albipunctatus	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Inherited acute myeloid leukemia (disorder)	Associated with	True	Congenital disease (disorder)	Inferred relationship	Some	2
Striate palmoplantar keratoderma (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Focal palmoplantar and gingival keratoderma	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Muscle filaminopathy	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Myopathy with hexagonally cross-linked tubular arrays	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Spheroid body myopathy	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Rolandic epilepsy, speech dyspraxia syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Kandori fleck retina syndrome	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital cyst of larynx (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Cyanotic congenital heart disease	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Metabolic myopathy due to lactate transporter defect	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
X-linked non progressive cerebellar ataxia (disorder)	Is a	False	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)