255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Congenital

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

Descriptions:

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
Autosomal dominant spastic paraplegia type 42	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 42	Occurrence	False	Congenital	Inferred relationship	Some	1
Double aortic arch with right arch dominant and left arch patent (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Keipert syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Keipert syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Keipert syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital patent ductus arteriosus aneurysm	Occurrence	True	Congenital	Inferred relationship	Some	1
Double aortic arch with right arch dominant and coarctation of left arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Conductive deafness, ptosis, skeletal anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 7q36 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral complete cleft lip and bilateral complete cleft of alveolus	Occurrence	True	Congenital	Inferred relationship	Some	1
Laing early-onset distal myopathy	Occurrence	False	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 13	Occurrence	True	Congenital	Inferred relationship	Some	4
Oro-facial digital syndrome type 13	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 13	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 13	Occurrence	True	Congenital	Inferred relationship	Some	5
Oro-facial digital syndrome type 13	Occurrence	True	Congenital	Inferred relationship	Some	3
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 7 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Male infertility with teratozoospermia due to single gene mutation (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Distal monosomy 9p syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 3p syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Brown oculocutaneous albinism	Occurrence	True	Congenital	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	Occurrence	True	Congenital	Inferred relationship	Some	1
Cheilognathoschisis	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Minimal pigment oculocutaneous albinism	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft soft palate with bilateral cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Occurrence	True	Congenital	Inferred relationship	Some	1
Oculocutaneous albinism	Occurrence	True	Congenital	Inferred relationship	Some	1
Birth defect due to maternal hyperthermia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal chromosome 18q deletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal chromosome 18q deletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Dyssegmental dysplasia Silverman Handmaker type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dyssegmental dysplasia Silverman Handmaker type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
X chromosome-linked pyridoxine responsive sideroblastic anemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Occult spinal dysraphism sequence	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculocutaneous albinism type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Occurrence	True	Congenital	Inferred relationship	Some	1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Occurrence	False	Congenital	Inferred relationship	Some	2
Joubert syndrome with orofaciodigital defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft hard and soft palate with left cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
8p23.1 duplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Oculocutaneous albinism type 7 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculocutaneous albinism type 6 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Tyrosinase-positive oculocutaneous albinism	Occurrence	True	Congenital	Inferred relationship	Some	1
Kandori fleck retina syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
Constriction ring syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
autosomalt dominant okulokutan albinism	Occurrence	False	Congenital	Inferred relationship	Some	1
X chromosome-linked pyridoxine refractory sideroblastic anemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Rufous albinism	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalus with albinism and digital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Proximal 16p11.2 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oculocutaneous albinism type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculocutaneous albinism type 1 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Oculocutaneous albinism type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard and soft palate with right cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculocutaneous albinism type 4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cross syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Temperature-sensitive oculocutaneous albinism	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard palate with bilateral cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	2
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cleft hard palate with left cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft hard palate with right cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft soft palate with left cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft soft palate with right cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
X chromosome-linked sideroblastic anemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital trigeminal anesthesia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cross syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Cleft hard palate with left cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Cleft hard and soft palate with bilateral cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft palate with bilateral cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculocutaneous albinism type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oculocutaneous albinism type 7 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oculocutaneous albinism type 6 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalus with albinism and digital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Oculocutaneous albinism type 4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard palate with bilateral cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	3
Oro-facial digital syndrome type 11 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Cleft palate with bilateral cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	3
X-linked sideroblastic anemia with spinocerebellar ataxia	Occurrence	True	Congenital	Inferred relationship	Some	1

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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)