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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
Autosomal dominant spastic paraplegia type 42 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal dominant spastic paraplegia type 42 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Double aortic arch with right arch dominant and left arch patent Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Keipert syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Keipert syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Keipert syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital patent ductus arteriosus aneurysm Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double aortic arch with right arch dominant and coarctation of left arch Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal monosomy 7q36 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Laing early-onset distal myopathy Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 7 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 6
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Male infertility with teratozoospermia due to single gene mutation Occurrence False Congenital Inferred relationship Existential restriction modifier 5
Distal monosomy 9p syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal monosomy 3p syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brown oculocutaneous albinism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Yellow mutant oculocutaneous albinism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cheilognathoschisis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 9 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Minimal pigment oculocutaneous albinism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 11 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oculocutaneous albinism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Birth defect due to maternal hyperthermia Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Tyrosinase-negative oculocutaneous albinism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal chromosome 18q deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal chromosome 18q deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Dyssegmental dysplasia Silverman Handmaker type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dyssegmental dysplasia Silverman Handmaker type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X chromosome-linked pyridoxine responsive sideroblastic anemia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Occult spinal dysraphism sequence Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculocutaneous albinism type 5 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Joubert syndrome with orofaciodigital defect Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
8p23.1 duplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oculocutaneous albinism type 7 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculocutaneous albinism type 6 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Tyrosinase-positive oculocutaneous albinism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Kandori fleck retina syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Constriction ring syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant oculocutaneous albinism Occurrence False Congenital Inferred relationship Existential restriction modifier 1
X chromosome-linked pyridoxine refractory sideroblastic anemia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Rufous albinism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephalus with albinism and digital anomaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Proximal 16p11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hermansky-Pudlak syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oculocutaneous albinism type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculocutaneous albinism type 1 Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Oculocutaneous albinism type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculocutaneous albinism type 4 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cross syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Temperature-sensitive oculocutaneous albinism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X chromosome-linked sideroblastic anemia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital trigeminal anesthesia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cross syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 11 Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculocutaneous albinism type 5 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oculocutaneous albinism type 7 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oculocutaneous albinism type 6 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephalus with albinism and digital anomaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Oculocutaneous albinism type 4 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Oro-facial digital syndrome type 11 Occurrence False Congenital Inferred relationship Existential restriction modifier 6
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
X-linked sideroblastic anemia with spinocerebellar ataxia Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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