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
Oligohydramnios sequence	Occurrence	True	Congenital	Inferred relationship	Some	1
Oligohydramnios sequence	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital negative ulnar variant of wrist (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopia lentis et pupillae (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopia lentis et pupillae (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cataract	Occurrence	True	Congenital	Inferred relationship	Some	1
Simple syndactyly of toes of right foot	Occurrence	True	Congenital	Inferred relationship	Some	1
Simple syndactyly of toes of left foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Peripheral congenital arteriovenous aneurysm	Occurrence	True	Congenital	Inferred relationship	Some	1
Acheiropodia	Occurrence	True	Congenital	Inferred relationship	Some	3
Acheiropodia	Occurrence	True	Congenital	Inferred relationship	Some	1
Acheiropodia	Occurrence	True	Congenital	Inferred relationship	Some	4
Acheiropodia	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital abnormal fusion of femur	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cubitus valgus	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital rearfoot valgus	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital forefoot valgus	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cubitus varus	Occurrence	True	Congenital	Inferred relationship	Some	1
Metatarsus primus varus	Occurrence	True	Congenital	Inferred relationship	Some	1
Genu recurvatum and long leg bone bowing	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cleft of posterior cricoid cartilage	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cleft thyroid cartilage	Occurrence	True	Congenital	Inferred relationship	Some	1
trifalangeala tummar med missbildning av nagel	Occurrence	False	Congenital	Inferred relationship	Some	2
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital onychauxis	Occurrence	False	Congenital	Inferred relationship	Some	2
Nail dystrophy due to Darier's disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Fronto-frontal dysostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Cherubism with gingival fibromatosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 69	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 69	Occurrence	False	Congenital	Inferred relationship	Some	1
Distal trisomy 18q	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 18q	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked osteoporosis with fractures	Occurrence	True	Congenital	Inferred relationship	Some	1
Intermandibular dysostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Oculodento-osseous dysplasia - mild type	Occurrence	True	Congenital	Inferred relationship	Some	1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculodento-osseous dysplasia - severe type	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 4q	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 4q	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 60	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 60	Occurrence	False	Congenital	Inferred relationship	Some	2
Xp22.13p22.2 duplication syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Xp22.13p22.2 duplication syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital inguinal hernia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculoauriculofrontonasal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculoauriculofrontonasal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pseudoarthrosis of limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Internasal dysostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Occurrence	True	Congenital	Inferred relationship	Some	3
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Occurrence	True	Congenital	Inferred relationship	Some	1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 71	Occurrence	False	Congenital	Inferred relationship	Some	1
Chondrodysplasia with joint dislocations gPAPP type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Maxillo-zygomatic dysostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysplasia of eye (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
10q22.3q23.3 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
10q22.3q23.3 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial congenital palsy of trochlear nerve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hajdu-Cheney syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male emopamil-binding protein disorder with neurological defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Male emopamil-binding protein disorder with neurological defect	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 66	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 66	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital atresia of coronary ostium	Occurrence	True	Congenital	Inferred relationship	Some	1
Non-distal monosomy 12q	Occurrence	True	Congenital	Inferred relationship	Some	1
Non-distal monosomy 12q	Occurrence	True	Congenital	Inferred relationship	Some	2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral congenital primary hydronephrosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Regional odontodysplasia	Occurrence	False	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Isidor type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal spastic paraplegia type 72	Occurrence	False	Congenital	Inferred relationship	Some	1
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Shell teeth	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 7p syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal monosomy 7p syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cerebellar cortical dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 3 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 3 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Inherited congenital spastic tetraplegia	Occurrence	True	Congenital	Inferred relationship	Some	2
Inherited congenital spastic tetraplegia	Occurrence	True	Congenital	Inferred relationship	Some	1
Occipital pachygyria and polymicrogyria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Occipital pachygyria and polymicrogyria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2

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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)