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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

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

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