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255399007: Congenital (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier

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

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