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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
Ethmocephalus Occurrence False Congenital Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient Occurrence False Congenital Inferred relationship Some
Unilateral agenesis of kidney Occurrence False Congenital Inferred relationship Some
Arylsulfatase deficiency without metachromatic leukodystrophy Occurrence True Congenital Inferred relationship Some 1
Muscle L-lactate dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Albinotic fundus Occurrence False Congenital Inferred relationship Some
Hay-Wells syndrome of ectodermal dysplasia Occurrence False Congenital Inferred relationship Some
Hyperlipidaemia Occurrence False Congenital Inferred relationship Some
Essential benign pentosuria Occurrence False Congenital Inferred relationship Some
Athyrotic hypothyroidism sequence Occurrence False Congenital Inferred relationship Some
Complete phocomelia of lower limb Occurrence False Congenital Inferred relationship Some
Congenital hyperplasia of kidney Occurrence False Congenital Inferred relationship Some
Glycogen storage disease, type V Occurrence True Congenital Inferred relationship Some 1
Hereditary spherocytosis Occurrence False Congenital Inferred relationship Some
Encephalocele Occurrence False Congenital Inferred relationship Some
Klippel-Feil sequence Occurrence False Congenital Inferred relationship Some
Congenital duplication of biliary duct Occurrence False Congenital Inferred relationship Some
Xeroderma pigmentosum, group E Occurrence False Congenital Inferred relationship Some
Pseudohypoparathyroidism type I B Occurrence False Congenital Inferred relationship Some
Pelvic kidney Occurrence False Congenital Inferred relationship Some
Congenital syphilitic splenomegaly Occurrence False Congenital Inferred relationship Some
Hemispheric cerebral agenesis Occurrence False Congenital Inferred relationship Some
Bardet-Biedl syndrome Occurrence False Congenital Inferred relationship Some
Leydig cell agenesis Occurrence False Congenital Inferred relationship Some
Congenital subaortic stenosis of tunnel type Occurrence False Congenital Inferred relationship Some
Congenital shortening of arm Occurrence False Congenital Inferred relationship Some
Fibrous hamartoma of infancy Occurrence False Congenital Inferred relationship Some
Juvenile fucosidosis Occurrence False Congenital Inferred relationship Some
Nasal glial heterotopia Occurrence False Congenital Inferred relationship Some
Naevus lipomatosus cutaneous superficialis Occurrence False Congenital Inferred relationship Some
Ulegyria Occurrence False Congenital Inferred relationship Some
Inherited disorder of bilirubin metabolism Occurrence True Congenital Inferred relationship Some 1
Congenital hypotrichia Occurrence False Congenital Inferred relationship Some
Hypertyrosinaemia Occurrence False Congenital Inferred relationship Some
Cohen syndrome Occurrence False Congenital Inferred relationship Some
Blunderbuss pelvis Occurrence False Congenital Inferred relationship Some
18p partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Intestinal enteropeptidase deficiency Occurrence True Congenital Inferred relationship Some 1
Hunter's syndrome, mild form Occurrence True Congenital Inferred relationship Some 1
Pallister-Hall syndrome Occurrence False Congenital Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of subcutaneous tissue Occurrence False Congenital Inferred relationship Some
Congenital hypertrichosis Occurrence False Congenital Inferred relationship Some
Overriding fingers Occurrence False Congenital Inferred relationship Some
Cervical thyroid remnant Occurrence False Congenital Inferred relationship Some
Strawberry naevus of skin Occurrence False Congenital Inferred relationship Some
Fistula colli congenita Occurrence False Congenital Inferred relationship Some
Uterus bicornis unicollis Occurrence False Congenital Inferred relationship Some
Microcystic renal disease Occurrence False Congenital Inferred relationship Some
Hyperammonaemia, type III Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of brain Occurrence False Congenital Inferred relationship Some
Cholesterol ester storage disease Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis syndrome Occurrence False Congenital Inferred relationship Some
Congenital obstruction of large intestine Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 5 Occurrence False Congenital Inferred relationship Some
Tyrosinosis Occurrence False Congenital Inferred relationship Some
Congenital absence of external ear Occurrence False Congenital Inferred relationship Some
Congenital tracheobronchomegaly Occurrence False Congenital Inferred relationship Some
Known OR suspected fetal anencephaly affecting obstetrical care Occurrence False Congenital Inferred relationship Some
Congenital anomaly of spleen Occurrence False Congenital Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence False Congenital Inferred relationship Some
Multiple malformation syndrome due to non-infectious environmental agents Occurrence False Congenital Inferred relationship Some
Congenital absence of larynx Occurrence False Congenital Inferred relationship Some
Hepatic methionine adenosyltransferase deficiency Occurrence True Congenital Inferred relationship Some 1
Acid phosphatase deficiency Occurrence True Congenital Inferred relationship Some 1
Seckel syndrome Occurrence False Congenital Inferred relationship Some
Janiceps Occurrence False Congenital Inferred relationship Some
Congenital absence of tibia AND fibula Occurrence False Congenital Inferred relationship Some
Congenital hypergammaglobulinaemia Occurrence True Congenital Inferred relationship Some 1
Cowden syndrome Occurrence False Congenital Inferred relationship Some
Mannosidosis, type II Occurrence False Congenital Inferred relationship Some
Congenital duplication of cervix Occurrence False Congenital Inferred relationship Some
Dihydropteridine reductase deficiency Occurrence True Congenital Inferred relationship Some 1
Infantile neuronal ceroid lipofuscinosis Occurrence True Congenital Inferred relationship Some 2
Maroteaux-Lamy syndrome, severe form Occurrence True Congenital Inferred relationship Some 1
Gingival odontogenic cyst Occurrence False Congenital Inferred relationship Some
Variegate porphyria Occurrence False Congenital Inferred relationship Some
Congenital syphilitic osteochondritis Occurrence False Congenital Inferred relationship Some
Acquired postural kyphosis Occurrence False Congenital Inferred relationship Some
Spinal cord dysplasia Occurrence False Congenital Inferred relationship Some
Sphingomyelin/cholesterol lipidosis Occurrence True Congenital Inferred relationship Some 1
Spina bifida aperta Occurrence False Congenital Inferred relationship Some 6
Hyperlysinaemia Occurrence False Congenital Inferred relationship Some
Diastrophic dysplasia Occurrence False Congenital Inferred relationship Some
Cutis laxa Occurrence False Congenital Inferred relationship Some
Leber's optic atrophy Occurrence True Congenital Inferred relationship Some 2
Familial disease with storage of sterols (other than cholesterol) Occurrence True Congenital Inferred relationship Some 1
Accessory lacrimal gland disorder Occurrence False Congenital Inferred relationship Some
Congenital exomphalos Occurrence False Congenital Inferred relationship Some
Reifenstein syndrome Occurrence False Congenital Inferred relationship Some
Neonatal tooth Occurrence False Congenital Inferred relationship Some
Double ductus arteriosus Occurrence False Congenital Inferred relationship Some
Pseudohypoparathyroidism type I A Occurrence False Congenital Inferred relationship Some
Congenital cystic eyeball Occurrence False Congenital Inferred relationship Some
Dilated cardiomyopathy secondary to glycogen storage disease Occurrence False Congenital Inferred relationship Some
Congenital aneurysm of anterior communicating artery Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 18 Occurrence False Congenital Inferred relationship Some
Congenital anomaly of female genital system Occurrence False Congenital Inferred relationship Some
Congenital dislocation of knee Occurrence False Congenital Inferred relationship Some
Partial aphalangia of lower limb Occurrence False Congenital Inferred relationship Some
Klippel-Trenaunay-Weber syndrome Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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