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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive omodysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of rib Occurrence False Congenital Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Occurrence True Congenital Inferred relationship Some 2
5-amino-4-imidazole carboxamide ribosiduria Occurrence False Congenital Inferred relationship Some 3
Combined immunodeficiency due to partial RAG1 deficiency Occurrence True Congenital Inferred relationship Some 1
P2Y12 defect Occurrence True Congenital Inferred relationship Some 1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 5
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 6
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 7
Mucolipidosis type IV Occurrence True Congenital Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome Occurrence False Congenital Inferred relationship Some 6
Congenital anomaly of external female genitalia Occurrence False Congenital Inferred relationship Some
Acquired atresia of pulmonary valve Occurrence False Congenital Inferred relationship Some
Gynandromorphism syndrome Occurrence False Congenital Inferred relationship Some
Group chromosomal alteration Occurrence False Congenital Inferred relationship Some
Chromosomal alterations of group A Occurrence False Congenital Inferred relationship Some
Chromosomal alterations of group B Occurrence False Congenital Inferred relationship Some
Chromosomal alterations of group C and X Occurrence False Congenital Inferred relationship Some
Chromosomal alterations of group D Occurrence False Congenital Inferred relationship Some
Chromosomal alterations of group E Occurrence False Congenital Inferred relationship Some
Chromosomal alterations of group F Occurrence False Congenital Inferred relationship Some
Chromosomal alterations of group G and Y Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lower respiratory system Occurrence False Congenital Inferred relationship Some
Accessory structure of lower respiratory tract Occurrence False Congenital Inferred relationship Some
Congenital atresia of cardiac valve Occurrence False Congenital Inferred relationship Some
Glycogen phosphorylase kinase deficiency Occurrence True Congenital Inferred relationship Some 1
Glycogen phosphorylase kinase deficiency, X-linked Occurrence False Congenital Inferred relationship Some 1
Glycogen phosphorylase kinase deficiency, autosomal recessive Occurrence True Congenital Inferred relationship Some 1
Cardiac glycogen phosphorylase kinase deficiency Occurrence True Congenital Inferred relationship Some 1
Hepatic and muscle glycogen phosphorylase kinase deficiency Occurrence True Congenital Inferred relationship Some 1
Hepatic glycogen phosphorylase kinase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of cardiac valve Occurrence False Congenital Inferred relationship Some
Congenital cleft of cardiac valve Occurrence False Congenital Inferred relationship Some
Dextrorotation of heart Occurrence False Congenital Inferred relationship Some
Laevoatrial cardinal vein Occurrence False Congenital Inferred relationship Some
Persistent dorsal mesentery Occurrence False Congenital Inferred relationship Some
Mesonephric duct cyst Occurrence False Congenital Inferred relationship Some
Uterus bicornis unicollis with septate vagina Occurrence False Congenital Inferred relationship Some
Rudimentary uterus in male Occurrence False Congenital Inferred relationship Some
Spontaneous closure of ventricular septal defect Occurrence False Congenital Inferred relationship Some
Ventricular septal defect, repaired Occurrence False Congenital Inferred relationship Some
Hereditary methaemoglobinaemia, enzymatic type Occurrence False Congenital Inferred relationship Some
HMG-CoA synthase deficiency Occurrence True Congenital Inferred relationship Some 1
Retinoid embryopathy Occurrence False Congenital Inferred relationship Some 1
CHST3-related skeletal dysplasia Occurrence False Congenital Inferred relationship Some 2
Cerebral gigantism jaw cysts syndrome Occurrence False Congenital Inferred relationship Some 1
Centripetalis recessive dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some 4
Centripetalis recessive dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some 5
Congenital myopathy Paradas type Occurrence False Congenital Inferred relationship Some 2
Congenital myopathy Paradas type Occurrence False Congenital Inferred relationship Some 3
Autosomal recessive faciodigitogenital syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive faciodigitogenital syndrome Occurrence False Congenital Inferred relationship Some 4
Autosomal recessive faciodigitogenital syndrome Occurrence False Congenital Inferred relationship Some 5
Microcephalic osteodysplastic primordial dwarfism types I and III Occurrence True Congenital Inferred relationship Some 2
Microcephalic osteodysplastic primordial dwarfism types I and III Occurrence False Congenital Inferred relationship Some 3
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type Occurrence False Congenital Inferred relationship Some 4
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type Occurrence False Congenital Inferred relationship Some 5
Polydactyly of biphalangeal thumb Occurrence True Congenital Inferred relationship Some 1
Resistance to thyrotropin-releasing hormone syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital anteversion of femur Occurrence False Congenital Inferred relationship Some
Disorder of cholesterol metabolism Occurrence False Congenital Inferred relationship Some
Uroporphyrinuria Occurrence False Congenital Inferred relationship Some
Coproporphyrinuria Occurrence False Congenital Inferred relationship Some
Protoporphyrinuria Occurrence False Congenital Inferred relationship Some
Tyrosinuria Occurrence False Congenital Inferred relationship Some
Congenital aplasia of lacrimal structure Occurrence True Congenital Inferred relationship Some 1
Deficiency of L-lactate dehydrogenase Occurrence True Congenital Inferred relationship Some 1
Deficiency of D-lactate dehydrogenase Occurrence True Congenital Inferred relationship Some 1
Deficiency of L-lactate dehydrogenase (cytochrome) Occurrence True Congenital Inferred relationship Some 1
Deficiency of xanthine oxidase Occurrence False Congenital Inferred relationship Some
Deficiency of butyryl-CoA dehydrogenase Occurrence False Congenital Inferred relationship Some 1
Deficiency of acyl-CoA dehydrogenase Occurrence False Congenital Inferred relationship Some
Deficiency of pyrroline-2-carboxylate reductase Occurrence False Congenital Inferred relationship Some
Deficiency of pyrroline-5-carboxylate reductase Occurrence False Congenital Inferred relationship Some
Deficiency of dihydrofolate reductase Occurrence False Congenital Inferred relationship Some
Deficiency of cytochrome-b>5< reductase Occurrence True Congenital Inferred relationship Some 1
Deficiency of NADPH-ferrihaemoprotein reductase Occurrence True Congenital Inferred relationship Some 1
Deficiency of NAPH cytochrome-c>2< reductase Occurrence True Congenital Inferred relationship Some 1
Distal muscular dystrophy with juvenile onset Occurrence False Congenital Inferred relationship Some 2
Distal myopathy 2 Occurrence False Congenital Inferred relationship Some 1
B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Bathing suit ichthyosis Occurrence True Congenital Inferred relationship Some 1
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation Occurrence True Congenital Inferred relationship Some 1
Deficiency of guanidinoacetate methyltransferase Occurrence True Congenital Inferred relationship Some 1
Deficiency of acetyl-coenzyme A acetyltransferase Occurrence False Congenital Inferred relationship Some
Congenital primary adrenocortical hypofunction Occurrence False Congenital Inferred relationship Some
Deficiency of AMP pyrophorylase Occurrence False Congenital Inferred relationship Some
Genetic recurrent myoglobinuria Occurrence True Congenital Inferred relationship Some 1
Congenital enterocyte heparan sulfate deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital duplication of rectum Occurrence True Congenital Inferred relationship Some 1
TARP syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital macrognathism Occurrence False Congenital Inferred relationship Some
Congenital radial deviation of finger Occurrence True Congenital Inferred relationship Some 1
Longitudinal deficiency of metatarsal bone Occurrence False Congenital Inferred relationship Some
Autosomal dominant myoglobinuria Occurrence True Congenital Inferred relationship Some 4
Genochondromatosis type 2 Occurrence True Congenital Inferred relationship Some 2
Infundibulopelvic stenosis multicystic kidney syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability Buenos Aires type Occurrence True Congenital Inferred relationship Some 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
McCune Albright syndrome Occurrence False Congenital Inferred relationship Some 5
McCune Albright syndrome Occurrence False Congenital Inferred relationship Some 6

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Reference Sets

Qualifier value foundation reference set

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