66091009: Congenital disease (disorder)

SNOMED CT Concept\constatation clinique\Disease\Congenital disease

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	est un(e) (attribut)	Disease	true	Inferred relationship	Some
Congenital disease	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital diverticulitis of small intestine (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Median nodule of upper lip (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital lethal erythroderma (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital chalasia of esophagus (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital cyst of aryepiglottic fold (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital hypogonadotropic hypogonadism (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital atrophy of optic nerve (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Nephrogenic syndrome of inappropriate antidiuresis (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Pigmented paravenous retinochoroidal atrophy (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Myotonia congenita (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital syringomyelia (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
myopathie mitochondriale pure	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital secondary hydronephrosis (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital dacryocele (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital malposition of eyelid (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Dystopia canthorum (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Platelet type pseudo-von Willebrand disease	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Asexual dwarfism	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Platelet storage pool defect	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hereditary anetoderma (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital cyst of orbit (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Hereditary disorder of endocrine system (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital hydrothorax (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Progressive supranuclear palsy (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital porencephalic cyst (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of vagina (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of vulva	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of mother complicating pregnancy (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Neonatal intestinal perforation co-occurrent and due to in utero intraluminal obstruction (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital thrombocytopenia (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital cardiovascular disorder (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital keratoderma	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Keratosis pilaris with ichthyosis and deafness	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital ichthyosiform erythroderma	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Palmoplantar keratoderma Nagashima type (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Autosomal dominant congenital benign spinal muscular atrophy	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Charcot-Marie-Tooth disease type 4 (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Combined pancreatic lipase and colipase deficiency	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
anesthésie congénitale du nerf trijumeau	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
syndrome d'ataxie cérébelleuse autosomique récessive-signes pyramidaux-nystagmus-apraxie oculomotrice	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Spectrin-associated autosomal recessive cerebellar ataxia	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Familial nasal acilia (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Hypermethioninemia due to deficiency of glycine N-methyltransferase	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Erythema palmare hereditarium	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Myosclerosis (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Action myoclonus renal failure syndrome	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Familial focal epilepsy with variable foci	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Autosomal dominant slowed nerve conduction velocity	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Fundus albipunctatus	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Inherited acute myeloid leukemia (disorder)	associé à (attribut)	True	Congenital disease	Inferred relationship	Some	2
Striate palmoplantar keratoderma (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Focal palmoplantar and gingival keratoderma	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Muscle filaminopathy	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Myopathy with hexagonally cross-linked tubular arrays	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Spheroid body myopathy	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Rolandic epilepsy, speech dyspraxia syndrome (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Kandori fleck retina syndrome	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital cyst of larynx (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Cyanotic congenital heart disease	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Metabolic myopathy due to lactate transporter defect	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
X-linked non progressive cerebellar ataxia (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
X-linked distal spinal muscular atrophy type 3 (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
XTE syndrome	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital pes cavus	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital varus deformity of foot	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital obstruction of ureteral orifice	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Epidermoid cyst of spleen	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Family history of congenital disease (situation)	constatation associée (attribut)	False	Congenital disease	Inferred relationship	Some	1
Family history: Anencephaly (situation)	constatation associée (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital talipes equinus	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital talipes calcaneus	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital vertical talus	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital positional talipes (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital talipes calcaneovalgus	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Reticulate acropigmentation of Kitamura	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hereditary factor IX deficiency disease (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
10211000188115	pathologie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
109766011	Congenital disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
109767019	Congenital disease, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3011638011	Foetal developmental abnormality	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3393573018	Maladie congénitale	fr	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3921000077116	maladie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
500308011	Congenital disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500309015	Congenital abnormality	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
500310013	Fetal developmental abnormality	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
660561000077119	maladie congénitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
805666017	Congenital disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core