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
Adrenomyodystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital muscular dystrophy with hyperlaxity (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital myopathy with myasthenic-like onset (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital patent ductus arteriosus aneurysm	Occurrence	False	Congenital	Inferred relationship	Some	2
Isolated congenital syngnathia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Charcot-Marie-Tooth disease type 4B3	Occurrence	True	Congenital	Inferred relationship	Some	1
Lethal congenital contracture syndrome type 5	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked Charcot-Marie-Tooth disease type 6 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spectrin-associated autosomal recessive cerebellar ataxia	Occurrence	True	Congenital	Inferred relationship	Some	1
Cerebrofacioarticular syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked hereditary motor and sensory neuropathy	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked hereditary spastic paraplegia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 48 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Familial progressive hyper and hypopigmentation	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 5A	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal spastic paraplegia type 30 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
X-linked Charcot-Marie-Tooth disease type 4	Occurrence	True	Congenital	Inferred relationship	Some	1
Ichthyosis prematurity syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Lethal multiple pterygium syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Lethal multiple pterygium syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Autosomal recessive spastic paraplegia type 11 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 39 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 36 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 44 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 46 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 53 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 54 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 55 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 57 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 32 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 26 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 23 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 64 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 63 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 61 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spastic paraplegia with Paget disease of bone syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 18 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 25 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 29 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spastic paraplegia, facial cutaneous lesion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Ring chromosome 15 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome 16 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome Y syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked Charcot-Marie-Tooth disease type 1	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked Charcot-Marie-Tooth disease type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked Charcot-Marie-Tooth disease type 3	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked Charcot-Marie-Tooth disease type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked lethal multiple pterygium syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
X-linked lethal multiple pterygium syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Distal monosomy 13q syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal monosomy 3p syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal monosomy 7q36 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal monosomy 9p syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial nasal acilia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperphalangy	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard palate with bilateral cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard palate with left cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard palate with right cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft soft palate with bilateral cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft soft palate with left cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft soft palate with right cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard and soft palate with bilateral cleft lip and alveolus (disorder)	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	1
Cleft hard and soft palate with right cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete left cleft lip and incomplete left cleft of alveolus	Occurrence	True	Congenital	Inferred relationship	Some	2
Incomplete right cleft lip and incomplete right cleft of alveolus	Occurrence	True	Congenital	Inferred relationship	Some	2
Velofacioskeletal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Primary laryngeal lymphangioma	Occurrence	False	Congenital	Inferred relationship	Some	2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Wiedemann Steiner syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
White forelock with malformations syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Trichodermodysplasia and dental alterations syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Syndactyly type 6	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniodigital syndrome and intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Spastic ataxia with congenital miosis	Occurrence	True	Congenital	Inferred relationship	Some	2
46,XY ovotesticular disorder of sex development	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial multiple nevi flammei (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial vesicoureteral reflux (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	Occurrence	False	Congenital	Inferred relationship	Some	2
Hypermethioninemia due to deficiency of glycine N-methyltransferase	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial isolated clinodactyly of finger (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, polydactyly, uncombable hair syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Intellectual disability, spasticity, ectrodactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Intellectual disability Wolff type	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital interventricular septum aneurysm	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated congenital adermatoglyphia	Occurrence	True	Congenital	Inferred relationship	Some	1
Dislocation of hip and facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Erythema palmare hereditarium	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)