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255399007: Congenital (qualifier value)


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

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 10
Median nodule of upper lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
MEHMO syndrome Occurrence False Congenital Inferred relationship Some 2
Lethal hemolytic anemia and genital anomaly syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 12
Congenital nephrotic syndrome due to diffuse mesangial sclerosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital melanocytic nevus of face Occurrence True Congenital Inferred relationship Some 1
Hypogonadism with anosmia Occurrence True Congenital Inferred relationship Some 3
Isolated anterior cervical hypertrichosis (disorder) Occurrence False Congenital Inferred relationship Some 2
Klippel Trenaunay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Johnson neuroectodermal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Johnson neuroectodermal syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Oculootoradial syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Kallman syndrome with heart disease (disorder) Occurrence False Congenital Inferred relationship Some 5
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence False Congenital Inferred relationship Some 9
Ocular albinism with late-onset sensorineural deafness (disorder) Occurrence False Congenital Inferred relationship Some 7
Oculopalatocerebral syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Oculopalatocerebral syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Oculopalatocerebral syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Oculocerebrofacial syndrome Kaufman type (disorder) Occurrence True Congenital Inferred relationship Some 3
Oculocerebrofacial syndrome Kaufman type (disorder) Occurrence False Congenital Inferred relationship Some 4
Oculocerebrofacial syndrome Kaufman type (disorder) Occurrence False Congenital Inferred relationship Some 5
Oculocutaneous albinism type 5 (disorder) Occurrence False Congenital Inferred relationship Some 5
Oculocutaneous albinism type 6 (disorder) Occurrence False Congenital Inferred relationship Some 5
Oculocutaneous albinism type 7 (disorder) Occurrence False Congenital Inferred relationship Some 5
Oculoosteocutaneous syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Oculotrichodysplasia (disorder) Occurrence True Congenital Inferred relationship Some 3
Oculotrichodysplasia (disorder) Occurrence True Congenital Inferred relationship Some 4
Oculotrichodysplasia (disorder) Occurrence True Congenital Inferred relationship Some 5
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Okamoto syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Okamoto syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Albinism with deafness syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Albinism with deafness syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) Occurrence False Congenital Inferred relationship Some 2
Book syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Book syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Ballard syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Ballard syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Bamforth Lazarus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Bamforth Lazarus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Bamforth Lazarus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Congenital cataract with deafness and hypogonadism syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Congenital cataract with deafness and hypogonadism syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Cataract and microcornea syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cataract and microcornea syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Catel Manzke syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Catel Manzke syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 7
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Congenital intrauterine infection-like syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital intrauterine infection-like syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital lethal erythroderma (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital absence of gastric muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of mother complicating pregnancy (disorder) Occurrence False Congenital Inferred relationship Some 1
Congenital chalasia of esophagus (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital short esophagus (disorder) Occurrence True Congenital Inferred relationship Some 1
Duplication cyst of esophagus (disorder) Occurrence True Congenital Inferred relationship Some 2
Duplication cyst of esophagus (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital infection caused by Echovirus (disorder) Occurrence True Congenital Inferred relationship Some 1
Mucocutaneous early congenital syphilis (disorder) Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of large intestine (disorder) Occurrence False Congenital Inferred relationship Some 2
Arteriovenous malformation of large intestine (disorder) Occurrence False Congenital Inferred relationship Some 3
Oculocutaneous albinism type 5 (disorder) Occurrence False Congenital Inferred relationship Some 6
Oculocutaneous albinism type 6 (disorder) Occurrence False Congenital Inferred relationship Some 6
Oculocutaneous albinism type 7 (disorder) Occurrence False Congenital Inferred relationship Some 6
Odontoleukodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 2
Okamoto syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Congenital nephrotic syndrome due to congenital infection (disorder) Occurrence True Congenital Inferred relationship Some 2
Ocular albinism with late-onset sensorineural deafness (disorder) Occurrence False Congenital Inferred relationship Some 8
Oculogastrointestinal muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy (disorder) Occurrence False Congenital Inferred relationship Some 3
Severe combined immunodeficiency with hypereosinophilia (disorder) Occurrence True Congenital Inferred relationship Some 3
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Gomez Lopez Hernandez syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4

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