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66091009: Congenital disease (disorder)


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

Descriptions:

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
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
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


9611 descendants. Search Descendants:

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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