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
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Microcephalus cardiomyopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcephalus cleft palate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Microcephalus cleft palate syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Microcephalus cleft palate syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Hadziselimovic syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Hadziselimovic syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Hadziselimovic syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
Hadziselimovic syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali	Occurrence	False	Congenital	Inferred relationship	Some	3
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali	Occurrence	False	Congenital	Inferred relationship	Some	4
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali	Occurrence	False	Congenital	Inferred relationship	Some	5
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Lethal faciocardiomelic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Lethal faciocardiomelic dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Lethal faciocardiomelic dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Lethal recessive chondrodysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Lethal omphalocele with cleft palate syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	10
Lethal Larsen-like syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Lelis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Lelis syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Leber plus disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Steatocystoma multiplex with natal tooth syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Microcephalus with albinism and digital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Late-onset junctional epidermolysis bullosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Mesomelic dysplasia Kantaputra type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Lethal omphalocele with cleft palate syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Congenital bronchobiliary fistula (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital bronchobiliary fistula (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital dyserythropoietic anemia type IV (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Cleidorhizomelic syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Disorder of sex development with intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Congenital hepatic fibrosis	Occurrence	False	Congenital	Inferred relationship	Some	2
Postaxial polydactyly type A (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Schmitt Gillenwater Kelly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Schmitt Gillenwater Kelly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
Schmitt Gillenwater Kelly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	8
Schmitt Gillenwater Kelly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	9
Microcornea with corectopia and macular hypoplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Jervell and Lange-Nielsen syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Abruzzo Erickson syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital oculocutaneous hypopigmentation	Occurrence	False	Congenital	Inferred relationship	Some	4
1q21.1 microdeletion	Occurrence	False	Congenital	Inferred relationship	Some	3
17q-deletionssyndromet	Occurrence	False	Congenital	Inferred relationship	Some	2
17q-deletionssyndromet	Occurrence	False	Congenital	Inferred relationship	Some	3
15q11q13 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
14q12 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
14q12 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
15q14 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
15q14 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
16p11.2p12.2 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
16p11.2p12.2 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
16p13.11 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
16p13.11 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
16p13.11 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
16q24.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
16q24.3 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
17q11.2 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
17q23.1q23.2 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
17q23.1q23.2 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Absence of fingerprints with congenital milia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Absence of fingerprints with congenital milia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
19p13.12 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
19p13.12 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
19q13.11 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
19q13.11 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
1p21.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
1p21.3 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
8p11.2 deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
8p11.2 deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
1q44 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
1q44 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
20p12.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
20p12.3 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
2p15p16.1 microdeletion syndrome (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)