FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.9.0  |  FHIR Version n/a  User: [n/a]

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
Congenital systemic venous atrium Occurrence False Congenital Inferred relationship Some
Left ventricle outflow chamber Occurrence False Congenital Inferred relationship Some
Right ventricle outflow chamber Occurrence False Congenital Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome Occurrence False Congenital Inferred relationship Some 5
Congenital pulmonary artery conduit Occurrence False Congenital Inferred relationship Some
Medium-chain acyl-coenzyme A dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bile duct Occurrence False Congenital Inferred relationship Some
Congenital stricture of ureteropelvic junction Occurrence False Congenital Inferred relationship Some
Congenital anomaly of iris Occurrence False Congenital Inferred relationship Some
Thiamine-responsive megaloblastic anaemia Occurrence True Congenital Inferred relationship Some 3
Disorder of phenylalanine metabolism Occurrence False Congenital Inferred relationship Some
Cystathioninuria Occurrence False Congenital Inferred relationship Some
Partial trisomy of chromosome 1 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of short arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 2
Partial trisomy of short arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 3
Partial trisomy of chromosome 2 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 3 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 4 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 5 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of long arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 2
Partial trisomy of long arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 3
Partial trisomy of chromosome 6 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 7 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 8 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 9 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 10 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 11 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 12 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 13 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 14 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 15 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 17 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 18 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 19 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of short arm of chromosome 19 Occurrence True Congenital Inferred relationship Some 2
Partial trisomy of short arm of chromosome 19 Occurrence True Congenital Inferred relationship Some 3
Partial trisomy of chromosome 20 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 21 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of chromosome 22 Occurrence True Congenital Inferred relationship Some 1
Tetraploidy Occurrence True Congenital Inferred relationship Some 1
Complete monosomy of autosome Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 1 Occurrence True Congenital Inferred relationship Some 1
Uniparental disomy of maternal origin Occurrence True Congenital Inferred relationship Some 1
Uniparental disomy of paternal origin Occurrence True Congenital Inferred relationship Some 1
Dermatoleukodystrophy Occurrence True Congenital Inferred relationship Some 3
Camptobrachydactyly Occurrence False Congenital Inferred relationship Some 4
Camptobrachydactyly Occurrence True Congenital Inferred relationship Some 5
Camptobrachydactyly Occurrence False Congenital Inferred relationship Some 6
Bencze syndrome Occurrence False Congenital Inferred relationship Some 3
Bencze syndrome Occurrence False Congenital Inferred relationship Some 4
Bonnemann Meinecke Reich syndrome Occurrence False Congenital Inferred relationship Some 3
Bonnemann Meinecke Reich syndrome Occurrence False Congenital Inferred relationship Some 4
Bonnemann Meinecke Reich syndrome Occurrence False Congenital Inferred relationship Some 5
Dysmorphism, short stature, deafness, disorder of sex development syndrome Occurrence False Congenital Inferred relationship Some 3
Dysmorphism, short stature, deafness, disorder of sex development syndrome Occurrence False Congenital Inferred relationship Some 4
Marfanoid habitus with autosomal recessive intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 3
OSLAM syndrome Occurrence False Congenital Inferred relationship Some 5
Myoclonus, cerebellar ataxia, deafness syndrome Occurrence True Congenital Inferred relationship Some 4
Myoclonus, cerebellar ataxia, deafness syndrome Occurrence True Congenital Inferred relationship Some 5
Trigonocephaly, short stature, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Trigonocephaly, short stature, developmental delay syndrome Occurrence False Congenital Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome Occurrence False Congenital Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome Occurrence False Congenital Inferred relationship Some 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome Occurrence False Congenital Inferred relationship Some 6
Absent tibia, polydactyly, arachnoid cyst syndrome Occurrence True Congenital Inferred relationship Some 3
Absent tibia, polydactyly, arachnoid cyst syndrome Occurrence False Congenital Inferred relationship Some 4
Absent tibia, polydactyly, arachnoid cyst syndrome Occurrence False Congenital Inferred relationship Some 5
Deafness, vitiligo, achalasia syndrome Occurrence True Congenital Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome Occurrence False Congenital Inferred relationship Some 5
Banki syndrome Occurrence True Congenital Inferred relationship Some 1
Thyrocerebrorenal syndrome Occurrence True Congenital Inferred relationship Some 4
Thyrocerebrorenal syndrome Occurrence True Congenital Inferred relationship Some 5
Thyrocerebrorenal syndrome Occurrence True Congenital Inferred relationship Some 7
Congenital ichthyosis of skin Occurrence False Congenital Inferred relationship Some
Platelet type pseudo-von Willebrand disease Occurrence False Congenital Inferred relationship Some 1
OSLAM syndrome Occurrence False Congenital Inferred relationship Some 3
Hypospadias Occurrence False Congenital Inferred relationship Some
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 7
Methylcrotonyl-CoA carboxylase deficiency Occurrence True Congenital Inferred relationship Some 1
Eyebrow duplication syndactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Eyebrow duplication syndactyly syndrome Occurrence False Congenital Inferred relationship Some 4
Eyebrow duplication syndactyly syndrome Occurrence False Congenital Inferred relationship Some 5
Stimmler syndrome Occurrence True Congenital Inferred relationship Some 3
Stimmler syndrome Occurrence True Congenital Inferred relationship Some 4
Stimmler syndrome Occurrence False Congenital Inferred relationship Some 5
DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Congenital disorder of glycosylation type 1n Occurrence True Congenital Inferred relationship Some 1
ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Asexual dwarfism Occurrence True Congenital Inferred relationship Some 1
Platelet dense granule deficiency Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive asexual dwarfism Occurrence True Congenital Inferred relationship Some 1
Nonfamilial asexual dwarfism Occurrence True Congenital Inferred relationship Some 1
Gray platelet syndrome Occurrence True Congenital Inferred relationship Some 3
X-linked asexual dwarfism Occurrence True Congenital Inferred relationship Some 1
Haemoglobin M disease Occurrence True Congenital Inferred relationship Some 1
Platelet storage pool defect Occurrence True Congenital Inferred relationship Some 1
Mixed alpha granule and dense body deficiency Occurrence True Congenital Inferred relationship Some 3
Dense body defect Occurrence True Congenital Inferred relationship Some 3
White platelet syndrome Occurrence True Congenital Inferred relationship Some 3
Medich giant platelet syndrome Occurrence True Congenital Inferred relationship Some 3

Start Previous Page 268 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start