FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

66091009: Congenital disease (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
109766011 Congenital disease en Synonym Active Entire term case insensitive SNOMED CT core module
109767019 Congenital disease, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
500308011 Congenital disorder en Synonym Active Entire term case insensitive SNOMED CT core module
500309015 Congenital abnormality en Synonym Inactive Only initial character case insensitive SNOMED CT core module
500310013 Fetal developmental abnormality en Synonym Inactive Only initial character case insensitive SNOMED CT core module
805666017 Congenital disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3011638011 Foetal developmental abnormality en Synonym Inactive Only initial character case insensitive SNOMED CT core module

9730 descendants. Search Descendants:

Expanded Value Set

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

Start Previous Page 5 of 7 Next End

This concept is not in any reference sets

Back to Start