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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
paraplégie spastique autosomique dominante type 31 survenue (attribut) False congénital Inferred relationship Some 1
Congenital muscular dystrophy with hyperlaxity (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Constitutional mismatch repair deficiency syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Complete right cleft lip (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Complete left cleft lip (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Mosaic trisomy 2 syndrome survenue (attribut) True congénital Inferred relationship Some 1
Cerebrofacioarticular syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome des hamartomes multiples (trouble) survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 13q syndrome survenue (attribut) True congénital Inferred relationship Some 1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome survenue (attribut) True congénital Inferred relationship Some 5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome survenue (attribut) True congénital Inferred relationship Some 1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome survenue (attribut) True congénital Inferred relationship Some 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome survenue (attribut) True congénital Inferred relationship Some 6
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome survenue (attribut) True congénital Inferred relationship Some 3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome survenue (attribut) True congénital Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 41 (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 41 (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Oro-facial digital syndrome type 12 survenue (attribut) True congénital Inferred relationship Some 4
Oro-facial digital syndrome type 12 survenue (attribut) True congénital Inferred relationship Some 6
Oro-facial digital syndrome type 12 survenue (attribut) True congénital Inferred relationship Some 5
Oro-facial digital syndrome type 12 survenue (attribut) True congénital Inferred relationship Some 2
Oro-facial digital syndrome type 12 survenue (attribut) True congénital Inferred relationship Some 3
Oro-facial digital syndrome type 12 survenue (attribut) True congénital Inferred relationship Some 1
X-linked spastic paraplegia type 34 survenue (attribut) False congénital Inferred relationship Some 1
X-linked spastic paraplegia type 34 survenue (attribut) False congénital Inferred relationship Some 2
Focal palmoplantar and gingival keratoderma survenue (attribut) False congénital Inferred relationship Some 1
Focal palmoplantar and gingival keratoderma survenue (attribut) False congénital Inferred relationship Some 2
Macrocephaly and developmental delay syndrome survenue (attribut) True congénital Inferred relationship Some 1
Spastic ataxia with congenital miosis survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 20 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 28 survenue (attribut) False congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 28 survenue (attribut) False congénital Inferred relationship Some 2
Laubry Pezzi syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome de Marfan néonatal survenue (attribut) True congénital Inferred relationship Some 1
syndrome de Marfan néonatal survenue (attribut) True congénital Inferred relationship Some 2
syndrome de Marfan néonatal survenue (attribut) True congénital Inferred relationship Some 3
Proximal chromosome 18q deletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 42 survenue (attribut) False congénital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 42 survenue (attribut) False congénital Inferred relationship Some 1
Double aortic arch with right arch dominant and left arch patent (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Keipert syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Keipert syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Keipert syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital patent ductus arteriosus aneurysm survenue (attribut) True congénital Inferred relationship Some 1
Double aortic arch with right arch dominant and coarctation of left arch (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Conductive deafness, ptosis, skeletal anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 7q36 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 1
myopathie distale précoce type Laing survenue (attribut) False congénital Inferred relationship Some 1
Oro-facial digital syndrome type 13 survenue (attribut) True congénital Inferred relationship Some 4
Oro-facial digital syndrome type 13 survenue (attribut) True congénital Inferred relationship Some 2
Oro-facial digital syndrome type 13 survenue (attribut) True congénital Inferred relationship Some 1
Oro-facial digital syndrome type 13 survenue (attribut) True congénital Inferred relationship Some 5
Oro-facial digital syndrome type 13 survenue (attribut) True congénital Inferred relationship Some 3
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 7 syndrome survenue (attribut) True congénital Inferred relationship Some 1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome survenue (attribut) True congénital Inferred relationship Some 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome survenue (attribut) False congénital Inferred relationship Some 6
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome survenue (attribut) True congénital Inferred relationship Some 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome survenue (attribut) True congénital Inferred relationship Some 5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome survenue (attribut) True congénital Inferred relationship Some 4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome survenue (attribut) True congénital Inferred relationship Some 1
Male infertility with teratozoospermia due to single gene mutation (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Distal monosomy 9p syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 3p syndrome survenue (attribut) True congénital Inferred relationship Some 1
Brown oculocutaneous albinism survenue (attribut) True congénital Inferred relationship Some 1
Yellow mutant oculocutaneous albinism survenue (attribut) True congénital Inferred relationship Some 1
Cheilognathoschisis (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Oro-facial digital syndrome type 9 (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Minimal pigment oculocutaneous albinism survenue (attribut) True congénital Inferred relationship Some 1
Oro-facial digital syndrome type 11 (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type survenue (attribut) True congénital Inferred relationship Some 1
Oculocutaneous albinism survenue (attribut) True congénital Inferred relationship Some 1
Birth defect due to maternal hyperthermia (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Tyrosinase-negative oculocutaneous albinism survenue (attribut) True congénital Inferred relationship Some 1
Distal chromosome 18q deletion syndrome survenue (attribut) True congénital Inferred relationship Some 1
Distal chromosome 18q deletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
dysplasie dyssegmentaire type Silverman-Handmaker survenue (attribut) True congénital Inferred relationship Some 1
dysplasie dyssegmentaire type Silverman-Handmaker survenue (attribut) True congénital Inferred relationship Some 2
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency survenue (attribut) True congénital Inferred relationship Some 1
X chromosome-linked pyridoxine responsive sideroblastic anemia survenue (attribut) True congénital Inferred relationship Some 3
Occult spinal dysraphism sequence survenue (attribut) True congénital Inferred relationship Some 2
Oculocutaneous albinism type 5 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier survenue (attribut) True congénital Inferred relationship Some 1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier survenue (attribut) False congénital Inferred relationship Some 2
Joubert syndrome with orofaciodigital defect (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 2
8p23.1 duplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1

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