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
Hemoglobin SS disease without crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Sickle cell-hemoglobin D disease without crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemoglobin S sickling disorder without crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary hemoglobin S (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-hemoglobin E disease with crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-hemoglobin E disease without crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-thalassemia disease with crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Sickle cell-thalassemia disease without crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Hemoglobin S sickling disorder with crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickling disorder due to hemoglobin S (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemoglobin SS disease with crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Sickle cell-hemoglobin C disease with crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-hemoglobin C disease without crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-hemoglobin D disease with crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary hemoglobinopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemoglobin SS disease with vasoocclusive crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Acute sickle cell splenic sequestration crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin O-Arab trait (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemoglobin H constant spring thalassemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Alpha thalassemia X-linked intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Dominant beta-thalassemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pseudoprogeria syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Pseudoprogeria syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Pseudoprogeria syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Pseudoprogeria syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Pseudoprogeria syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Exostosis, anetoderma, brachydactyly type E syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	13
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Occurrence	False	Congenital	Inferred relationship	Some	4
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Occurrence	False	Congenital	Inferred relationship	Some	5
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Occurrence	False	Congenital	Inferred relationship	Some	6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital disorder of glycosylation type 1s	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Long thumb brachydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Long thumb brachydactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Long thumb brachydactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
Long thumb brachydactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
Sickle cell trait in mother complicating pregnancy	Occurrence	True	Congenital	Inferred relationship	Some	1
Thalassemia in mother complicating pregnancy	Occurrence	True	Congenital	Inferred relationship	Some	3
Sickle cell anaemia in mother complicating childbirth	Occurrence	True	Congenital	Inferred relationship	Some	3
Sickle cell trait in mother complicating childbirth (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thalassemia in mother complicating childbirth	Occurrence	True	Congenital	Inferred relationship	Some	3
Choroideremia with deafness and obesity syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Choroideremia with deafness and obesity syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Polydactyly myopia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Polydactyly myopia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
syndrom med mikrocefali, digital anomali och intellektuell funktionsnedsättning	Occurrence	False	Congenital	Inferred relationship	Some	2
syndrom med mikrocefali, digital anomali och intellektuell funktionsnedsättning	Occurrence	False	Congenital	Inferred relationship	Some	3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Dandy-Walker malformation with postaxial polydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Dandy-Walker malformation with postaxial polydactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
Skeletal dysplasia brachydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Skeletal dysplasia brachydactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Van den Bosch syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Van den Bosch syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Van den Bosch syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Congenital disorder of glycosylation type 1w (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital disorder of glycosylation type 1x	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Congenital disorder of glycosylation type 1y	Occurrence	True	Congenital	Inferred relationship	Some	1
Aniridia, renal agenesis, psychomotor retardation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Aniridia, renal agenesis, psychomotor retardation syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	11
Acrocephalopolysyndactyly type IV (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Acrocephalopolysyndactyly type IV (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
16p11.2p12.2 microduplication syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
17q12 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
17q12 microdeletion syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
20q13.33 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
20q13.33 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Distal 16p11.2 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal 16p11.2 microdeletion syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Megalocornea with intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Isolated hereditary congenital facial paralysis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Dandy-Walker malformation with postaxial polydactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	9

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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)