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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

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
Autosomal recessive spastic paraplegia type 44 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 46 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 53 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 54 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 55 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 57 Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 32 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 26 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 23 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 64 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 63 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 61 Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia with Paget disease of bone syndrome Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 18 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 25 Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 29 Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia, neuropathy, poikiloderma syndrome Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia, facial cutaneous lesion syndrome 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 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 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 Occurrence True Congenital Inferred relationship Some 1
X-linked lethal multiple pterygium syndrome Occurrence False Congenital Inferred relationship Some 2
X-linked lethal multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 3
Distal monosomy 13q syndrome Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 3p Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 7q36 Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 9p Occurrence True Congenital Inferred relationship Some 2
Familial nasal acilia Occurrence True Congenital Inferred relationship Some 1
Supernumerary phalanx Occurrence True Congenital Inferred relationship Some 1
Cleft lip and cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Incomplete left cleft lip and incomplete cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Incomplete right cleft lip and incomplete cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Velofacioskeletal syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital lymphangioma of larynx Occurrence False Congenital Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome 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 naevi flammei Occurrence True Congenital Inferred relationship Some 1
Familial vesicoureteral reflux Occurrence True Congenital Inferred relationship Some 1
Finnish upper limb onset distal myopathy Occurrence False Congenital Inferred relationship Some 2
Hypermethioninaemia due to deficiency of glycine N-methyltransferase Occurrence True Congenital Inferred relationship Some 1
Hypotonia, speech impairment, severe cognitive delay syndrome Occurrence True Congenital Inferred relationship Some 2
Caudal hemivertebra Occurrence False Congenital Inferred relationship Some
Cervical hemivertebra Occurrence False Congenital Inferred relationship Some
Cleft face Occurrence False Congenital Inferred relationship Some
Cleft mandible Occurrence False Congenital Inferred relationship Some
Neurofibromatosis type 1 Occurrence False Congenital Inferred relationship Some
Combined valvular-subvalvular pulmonic stenosis Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of adrenal glands Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of alisphenoid bone Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of arch of caudal vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of arch of cervical vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of arch of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of arch of sacral vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of arch of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of basioccipital bone Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of basisphenoid bone Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of calcaneus Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of carpal bone Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of centrum cartilage of cervical vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of centrum cartilage of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of centrum cartilage of sacral vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of centrum cartilage of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of centrum of caudal vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of centrum of cervical vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of centrum of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of centrum of sacral vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of centrum of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of exoccipital bone Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of femur Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of fibula Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of forepaw phalanx Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of frontal bone Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of hindpaw phalanx Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of humerus Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of ilium Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of interparietal bone Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of ischium Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of lacrimal bone Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of liver lobes Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of mandible Occurrence False Congenital Inferred relationship Some
Congenital abnormal fusion of maxilla Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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