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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
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
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
805666017 Congenital disease (disorder) en Fully specified name Active Entire term 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 Switzerland NRC maintained Module
3921000077116 maladie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
10211000188115 pathologie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9674 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disease (disorder) Is a Disease true Inferred relationship Some
Congenital disease (disorder) Occurrence Congenital true Inferred relationship Some 1
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 True Congenital disease (disorder) Inferred relationship Some
Chronic diarrhea due to glucoamylase deficiency (disorder) Is a True 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 True 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 True Congenital disease (disorder) Inferred relationship Some
Congenital chalasia of esophagus (disorder) Is a True 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 True Congenital disease (disorder) Inferred relationship Some
Congenital atrophy of optic nerve (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis (disorder) Is a True 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 True Congenital disease (disorder) Inferred relationship Some
Myotonia congenita (disorder) Is a True 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 True 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
Platelet type pseudo-von Willebrand disease 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 True 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 True 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 True 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 True Congenital disease (disorder) Inferred relationship Some
Charcot-Marie-Tooth disease type 4 (disorder) Is a True 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 True Congenital disease (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia Is a True Congenital disease (disorder) Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Is a True 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 True Congenital disease (disorder) Inferred relationship Some
Erythema palmare hereditarium Is a True Congenital disease (disorder) Inferred relationship Some
Myosclerosis (disorder) Is a True 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 True Congenital disease (disorder) Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Familial focal epilepsy with variable foci Is a True Congenital disease (disorder) Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Congenital disease (disorder) Inferred relationship Some
Autosomal dominant slowed nerve conduction velocity Is a True 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 True Congenital disease (disorder) Inferred relationship Some
Focal palmoplantar and gingival keratoderma Is a False Congenital disease (disorder) Inferred relationship Some
Muscle filaminopathy Is a True Congenital disease (disorder) Inferred relationship Some
Myopathy with hexagonally cross-linked tubular arrays Is a True 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 True Congenital disease (disorder) Inferred relationship Some
Rolandic epilepsy, speech dyspraxia syndrome (disorder) Is a True 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 True 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 True 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 True 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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