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
X-linked sideroblastic anemia with spinocerebellar ataxia	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard and soft palate with left cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft hard and soft palate with bilateral cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital deformity of left lower limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of right clavicle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral congenital deformity of lower limbs	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral congenital deformity of lower limbs	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral congenital deformity fingers	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral congenital deformity fingers	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of left clavicle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of right finger	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of right upper limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of left finger	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital absence of right hand	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital bilateral short Achilles tendons (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital bilateral short Achilles tendons (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital deformity of right lower limb	Occurrence	True	Congenital	Inferred relationship	Some	1
Carbamoyl-phosphate synthetase 1 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital bilateral short Achilles tendons (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Waardenburg's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Familial glucocorticoid deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Adult type polycystic kidney disease type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital arteriovenous malformation of right lower limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Adult type polycystic kidney disease type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease in childhood	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of cardiac chamber (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital arteriovenous malformation of left lower limb	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (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	3
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Ring chromosome 5 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome 19 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome 2 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome 3 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
HIVEP2-related intellectual disability	Occurrence	True	Congenital	Inferred relationship	Some	1
HIVEP2-related intellectual disability	Occurrence	False	Congenital	Inferred relationship	Some	2
Ring chromosome 6 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome 7 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral polymicrogyria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Alstrom syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cyst of larynx (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Angioosteohypotrophic syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Angioosteohypotrophic syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcephalic primordial dwarfism Montreal type	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcephalic primordial dwarfism Montreal type	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Occurrence	False	Congenital	Inferred relationship	Some	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 45 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 45 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Axial mesodermal dysplasia spectrum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male infertility with azoospermia due to single gene mutation (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Hypertrophy of left kidney co-occurrent and due to congenital hypoplasia of right kidney	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of ilium	Occurrence	True	Congenital	Inferred relationship	Some	1
ofullständig förbening av os ischii	Occurrence	False	Congenital	Inferred relationship	Some	1
ofullständig förbening av blygdbenet	Occurrence	False	Congenital	Inferred relationship	Some	1
Lack of ossification of pubis	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification	Occurrence	True	Congenital	Inferred relationship	Some	1
Hartsfield syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hartsfield syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Male infertility with oligozoospermia due to single gene mutation	Occurrence	False	Congenital	Inferred relationship	Some	4
Lack of ossification of ischium	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysplasia of left kidney	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysplasia of right kidney	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital left vesicoureterorenal reflux	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital left vesicoureterorenal reflux	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital right vesicoureterorenal reflux	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital right vesicoureterorenal reflux	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal monosomy 15q	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 17q	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 19q	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 1p36	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 1p36	Occurrence	True	Congenital	Inferred relationship	Some	2
Lethal infantile mitochondrial myopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lowe Kohn Cohen syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Lowe Kohn Cohen syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital absence of innominate vein (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 6 (disorder)	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)