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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
Congenital hydrocele of canal of Nuck Occurrence True Congenital Inferred relationship Some 1
Pendred's syndrome Occurrence False Congenital Inferred relationship Some 2
Aneurysm osteoarthritis syndrome Occurrence True Congenital Inferred relationship Some 4
PGM1-CDG Occurrence True Congenital Inferred relationship Some 1
Bleeding diathesis due to thromboxane synthesis deficiency Occurrence True Congenital Inferred relationship Some 2
Chronic granulomatous disease, type II Occurrence True Congenital Inferred relationship Some 2
Muscle eye brain disease with bilateral multicystic leukodystrophy Occurrence True Congenital Inferred relationship Some 5
Chronic granulomatous disease, type III Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant secondary polycythaemia Occurrence True Congenital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Occurrence True Congenital Inferred relationship Some 1
Heart defect, tongue hamartoma, polysyndactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Occurrence True Congenital Inferred relationship Some 2
Short chain acyl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Occurrence True Congenital Inferred relationship Some 2
Severe achondrolasia with developmental delay and acanthosis nigricans Occurrence False Congenital Inferred relationship Some 5
Majeed syndrome Occurrence True Congenital Inferred relationship Some 3
Chronic granulomatous disease, type IIA Occurrence True Congenital Inferred relationship Some 2
Cervical hydromyelocele Occurrence False Congenital Inferred relationship Some 2
Lumbar hydromyelocele Occurrence False Congenital Inferred relationship Some 2
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Occurrence True Congenital Inferred relationship Some 1
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Occurrence True Congenital Inferred relationship Some 2
Periodontitis co-occurrent with Chédiak-Higashi syndrome Occurrence False Congenital Inferred relationship Some 4
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency Occurrence True Congenital Inferred relationship Some 2
Hypopigmentation-immunodeficiency disease Occurrence True Congenital Inferred relationship Some 3
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Occurrence True Congenital Inferred relationship Some 3
Lipoyl transferase 1 deficiency Occurrence True Congenital Inferred relationship Some 1
Usher syndrome type 2 Occurrence True Congenital Inferred relationship Some 4
Chronic granulomatous disease, type I Occurrence True Congenital Inferred relationship Some 2
Thoracic hydromyelocele Occurrence False Congenital Inferred relationship Some 2
Congenital arthrogryposis due to teratogen Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Occurrence True Congenital Inferred relationship Some 2
Chronic granulomatous disease, type IV Occurrence True Congenital Inferred relationship Some 2
X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia Occurrence True Congenital Inferred relationship Some 1
Pseudovaginal perineoscrotal hypospadias Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive cutis laxa type 2A Occurrence True Congenital Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type Occurrence True Congenital Inferred relationship Some 2
Albinism with deafness syndrome Occurrence False Congenital Inferred relationship Some 4
Retinitis pigmentosa-deafness syndrome Occurrence True Congenital Inferred relationship Some 4
Usher syndrome type 1 Occurrence True Congenital Inferred relationship Some 4
Chronic granulomatous disease, type IA Occurrence True Congenital Inferred relationship Some 2
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Occurrence True Congenital Inferred relationship Some 2
Menkes kinky-hair syndrome Occurrence True Congenital Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Chronic granulomatous disease, type IVA Occurrence True Congenital Inferred relationship Some 2
Brachydactyly, short stature, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Some 1
Osteopetrosis hypogammaglobulinaemia syndrome Occurrence True Congenital Inferred relationship Some 3
Larsen-like syndrome B3GAT3 type Occurrence True Congenital Inferred relationship Some 7
Retinitis pigmentosa-deafness-ataxia syndrome Occurrence True Congenital Inferred relationship Some 4
Familial adrenal hypoplasia with absent pituitary luteinising hormone Occurrence True Congenital Inferred relationship Some 1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome Occurrence True Congenital Inferred relationship Some 1
Complete congenital duodenal obstruction Occurrence True Congenital Inferred relationship Some 1
Hemicephaly Occurrence True Congenital Inferred relationship Some 1
Congenital spondylolisthesis Occurrence True Congenital Inferred relationship Some 1
Femoral hypoplasia - unusual facies syndrome Occurrence True Congenital Inferred relationship Some 2
Hereditary elliptocytosis due to glycophorin C deficiency Occurrence True Congenital Inferred relationship Some 4
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type Occurrence True Congenital Inferred relationship Some 1
Frontal dysostosis Occurrence True Congenital Inferred relationship Some 1
Duplication of teeth Occurrence False Congenital Inferred relationship Some 1
Lateral accessory root canals Occurrence False Congenital Inferred relationship Some 1
Intrinsic enamel discolouration of erythroblastosis fetalis Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta, hypocalcification type Occurrence True Congenital Inferred relationship Some 1
Precocious exfoliation due to ectopic eruption of proximate tooth Occurrence False Congenital Inferred relationship Some 1
Leprechaunism syndrome Occurrence True Congenital Inferred relationship Some 2
Leprechaunism syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital cleft of cardiac valve Occurrence True Congenital Inferred relationship Some 1
Congenital neurogenic ileus syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis Occurrence False Congenital Inferred relationship Some 2
Partial androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Some 2
Partial androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Some 1
Talipes valgus of left foot Occurrence True Congenital Inferred relationship Some 2
Talipes valgus of right foot Occurrence True Congenital Inferred relationship Some 2
Fibrous dysplasia of bone Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic naevus of skin of left upper limb Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic naevus of skin of left lower limb Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic naevus of skin of right upper limb Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic naevus of skin of right lower limb Occurrence True Congenital Inferred relationship Some 1
Monostotic fibrous dysplasia of periradicular alveolar bone Occurrence True Congenital Inferred relationship Some 1
Synechia vulvae Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left lower limb Occurrence True Congenital Inferred relationship Some 1
Congenital absence of right lower limb Occurrence True Congenital Inferred relationship Some 1
Brachydactyly of toes of left foot Occurrence True Congenital Inferred relationship Some 1
Bilateral brachydactyly of toes Occurrence True Congenital Inferred relationship Some 2
Bilateral brachydactyly of toes Occurrence True Congenital Inferred relationship Some 1
Brachydactyly of toes of right foot Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of right Gartner's duct Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of left Gartner's duct Occurrence True Congenital Inferred relationship Some 1
Congenital esotropia of right eye Occurrence False Congenital Inferred relationship Some 1
Congenital esotropia of left eye Occurrence False Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome, type 2 Occurrence True Congenital Inferred relationship Some 1
Single coronary artery Occurrence True Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome, type 4 Occurrence True Congenital Inferred relationship Some 1
Congenital duodenal obstruction Occurrence True Congenital Inferred relationship Some 1
Schinzel-Giedion syndrome Occurrence True Congenital Inferred relationship Some 4
Oguchi's disease Occurrence True Congenital Inferred relationship Some 1
Hennekam syndrome Occurrence True Congenital Inferred relationship Some 4
Hennekam syndrome Occurrence True Congenital Inferred relationship Some 3
Hereditary elliptocytosis with transient poikilocytosis Occurrence True Congenital Inferred relationship Some 4
Inherited renal tubule insufficiency with cholestatic jaundice Occurrence True Congenital Inferred relationship Some 2
Inherited renal tubule insufficiency with cholestatic jaundice Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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