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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
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Occurrence False Congenital Inferred relationship Some 6
Parastremmatic dwarfism Occurrence False Congenital Inferred relationship Some 2
Duane anomaly, myopathy, scoliosis syndrome Occurrence False Congenital Inferred relationship Some 6
Symphalangism Occurrence True Congenital Inferred relationship Some 1
Congenital diverticulum of small intestine Occurrence True Congenital Inferred relationship Some 1
Atresia of jejunum type IIIb Occurrence True Congenital Inferred relationship Some 1
Atresia of jejunum type IV Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to acid maltase deficiency, infantile onset Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to acid maltase deficiency, late-onset Occurrence True Congenital Inferred relationship Some 1
Congenital conduction defect Occurrence False Congenital Inferred relationship Some
Familial haemolytic uraemic syndrome Occurrence False Congenital Inferred relationship Some
Congenital perineal groove Occurrence True Congenital Inferred relationship Some 1
Congenital cyst of aryepiglottic fold Occurrence True Congenital Inferred relationship Some 1
Congenital central hypothyroidism Occurrence True Congenital Inferred relationship Some 1
Congenital hypothyroidism due to iodine deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital hypogonadotropic hypogonadism Occurrence True Congenital Inferred relationship Some 2
Congenital hypogonadotropic hypogonadism Occurrence True Congenital Inferred relationship Some 3
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi Occurrence True Congenital Inferred relationship Some 2
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi Occurrence False Congenital Inferred relationship Some 3
Congenital malformation of autonomic nervous system Occurrence True Congenital Inferred relationship Some 1
Hirschsprung's disease Occurrence True Congenital Inferred relationship Some 1
Long segment Hirschsprung's disease Occurrence True Congenital Inferred relationship Some 1
Short segment Hirschsprung's disease Occurrence True Congenital Inferred relationship Some 1
Total intestinal aganglionosis Occurrence True Congenital Inferred relationship Some 1
Aganglionosis of Auerbach's plexus Occurrence True Congenital Inferred relationship Some 2
Mowat-Wilson syndrome Occurrence True Congenital Inferred relationship Some 3
Mowat-Wilson syndrome Occurrence True Congenital Inferred relationship Some 4
Waardenburg Shah syndrome Occurrence True Congenital Inferred relationship Some 1
Waardenburg Shah syndrome Occurrence True Congenital Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome Occurrence False Congenital Inferred relationship Some 7
Haddad syndrome Occurrence False Congenital Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome Occurrence False Congenital Inferred relationship Some 10
Hirschsprung disease with type D brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 9
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence False Congenital Inferred relationship Some 11
Hirschsprung disease of rectosigmoid region Occurrence False Congenital Inferred relationship Some 6
Hirschsprung disease of rectosigmoid region Occurrence False Congenital Inferred relationship Some 7
Extensive aganglionosis Hirschsprung disease Occurrence True Congenital Inferred relationship Some 4
Extensive aganglionosis Hirschsprung disease Occurrence False Congenital Inferred relationship Some 5
Immature ganglionosis of large intestine Occurrence True Congenital Inferred relationship Some 3
Immature ganglionosis of large intestine Occurrence False Congenital Inferred relationship Some 4
Congenital hypoganglionosis of large intestine Occurrence True Congenital Inferred relationship Some 3
Congenital hypoganglionosis of large intestine Occurrence False Congenital Inferred relationship Some 4
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes Occurrence False Congenital Inferred relationship Some 2
Congenital pulmonary hypoplasia due to lung space occupying lesion Occurrence False Congenital Inferred relationship Some 2
Aplasia of optic nerve Occurrence True Congenital Inferred relationship Some 1
Congenital atrophy of optic nerve Occurrence True Congenital Inferred relationship Some 1
Aganglionosis of large intestine Occurrence True Congenital Inferred relationship Some 1
Congenital dysgenetic ptosis Occurrence False Congenital Inferred relationship Some
Congenital developmental anomaly of cystic duct Occurrence True Congenital Inferred relationship Some 1
Megalopapilla Occurrence True Congenital Inferred relationship Some 1
Basal epidermolysis bullosa simplex Occurrence False Congenital Inferred relationship Some 4
Basal epidermolysis bullosa simplex Occurrence False Congenital Inferred relationship Some 5
Lumbosacral agenesis Occurrence True Congenital Inferred relationship Some 2
Coloboma of choroid Occurrence False Congenital Inferred relationship Some 3
Congenital chorioretinal coloboma of right eye Occurrence True Congenital Inferred relationship Some 2
Congenital chorioretinal coloboma of left eye Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital chorioretinal coloboma of eyes Occurrence True Congenital Inferred relationship Some 3
Bilateral congenital chorioretinal coloboma of eyes Occurrence True Congenital Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease syndrome Occurrence False Congenital Inferred relationship Some 3
Microcephaly, seizure, intellectual disability, heart disease syndrome Occurrence False Congenital Inferred relationship Some 4
Ethylmalonic encephalopathy Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy Occurrence False Congenital Inferred relationship Some 5
Epidermolysis bullosa simplex with muscular dystrophy Occurrence False Congenital Inferred relationship Some 6
Epidermolysis bullosa simplex with muscular dystrophy Occurrence False Congenital Inferred relationship Some 7
Endocrine-cerebro-osteodysplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Endocrine-cerebro-osteodysplasia syndrome Occurrence False Congenital Inferred relationship Some 5
Endocrine-cerebro-osteodysplasia syndrome Occurrence False Congenital Inferred relationship Some 6
Endocrine-cerebro-osteodysplasia syndrome Occurrence False Congenital Inferred relationship Some 7
Duplication/inversion 15q11 Occurrence True Congenital Inferred relationship Some 1
Faciocardiorenal syndrome Occurrence True Congenital Inferred relationship Some 3
Faciocardiorenal syndrome Occurrence False Congenital Inferred relationship Some 4
Faciocardiorenal syndrome Occurrence False Congenital Inferred relationship Some 5
Fallot complex with intellectual disability and growth delay syndrome Occurrence False Congenital Inferred relationship Some 9
Fallot complex with intellectual disability and growth delay syndrome Occurrence False Congenital Inferred relationship Some 10
Familial multiple fibrofolliculoma Occurrence False Congenital Inferred relationship Some 2
Familial multiple fibrofolliculoma Occurrence False Congenital Inferred relationship Some 3
Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome Occurrence False Congenital Inferred relationship Some 4
Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome Occurrence False Congenital Inferred relationship Some 5
Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome Occurrence False Congenital Inferred relationship Some 6
Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome Occurrence False Congenital Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome Occurrence False Congenital Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome Occurrence False Congenital Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome Occurrence False Congenital Inferred relationship Some 6
Congenital absence of ovary Occurrence False Congenital Inferred relationship Some
Micromelia Occurrence True Congenital Inferred relationship Some 1
Kozlowski spondylometaphyseal dysplasia Occurrence False Congenital Inferred relationship Some 2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Occurrence False Congenital Inferred relationship Some 4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Occurrence False Congenital Inferred relationship Some 5
RIN2 syndrome Occurrence True Congenital Inferred relationship Some 2
RIN2 syndrome Occurrence False Congenital Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence False Congenital Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence False Congenital Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence False Congenital Inferred relationship Some 6
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence False Congenital Inferred relationship Some 7
Microlissencephaly micromelia syndrome Occurrence False Congenital Inferred relationship Some 5
Microlissencephaly micromelia syndrome Occurrence False Congenital Inferred relationship Some 6
Microlissencephaly micromelia syndrome Occurrence False Congenital Inferred relationship Some 7
Pili torti onychodysplasia syndrome Occurrence False Congenital Inferred relationship Some 4
Pili torti onychodysplasia syndrome Occurrence False Congenital Inferred relationship Some 5
Pili torti onychodysplasia syndrome Occurrence False Congenital Inferred relationship Some 6
Pili torti onychodysplasia syndrome Occurrence False Congenital Inferred relationship Some 7

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Reference Sets

Qualifier value foundation reference set

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