FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.0  |  FHIR Version n/a  User: [n/a]

255399007: Congenital (qualifier value)

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

Descriptions:

Id Description Lang Type Status Case? Module
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hydronephrosis due to ureteral obstruction (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital hydronephrosis due to bladder obstruction survenue (attribut) True congénital Inferred relationship Some 1
Congenital retinoschisis survenue (attribut) True congénital Inferred relationship Some 2
Congenital retinoschisis survenue (attribut) True congénital Inferred relationship Some 1
Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia survenue (attribut) True congénital Inferred relationship Some 2
Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia survenue (attribut) True congénital Inferred relationship Some 1
Congenital hydronephrosis due to ureteral orifice obstruction survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant sideroblastic anemia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hemoglobin C beta thalassemia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital microencephaly (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Haemoglobin Paksé disease survenue (attribut) True congénital Inferred relationship Some 2
Hemoglobin Seal Rock disease (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pigmented melanocytic nevus of skin of right ear (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital pigmented melanocytic naevus of skin of left ear survenue (attribut) True congénital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of lip survenue (attribut) True congénital Inferred relationship Some 1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Microcephaly with simplified gyral pattern survenue (attribut) True congénital Inferred relationship Some 2
Infection of urachal sinus survenue (attribut) True congénital Inferred relationship Some 2
Infection of urachal remnant (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Infection of urachal sinus survenue (attribut) True congénital Inferred relationship Some 1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Curry-Hall syndrome survenue (attribut) True congénital Inferred relationship Some 5
7q partial trisomy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 3
Non-distal monosomy 10q (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Distal monosomy 10q syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
2q23.1 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
7q11.23 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Proximal deletion of long arm of chromosome 10 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
7p partial trisomy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal trisomy 7p syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
syndrome de microduplication 7p22.1 survenue (attribut) True congénital Inferred relationship Some 2
syndrome de microdélétion 1p21.3 survenue (attribut) True congénital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 1 survenue (attribut) True congénital Inferred relationship Some 2
1q44 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
1q41q42 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
22q13.3 deletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
Distal 22q11.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
22q partial trisomy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal trisomy 22q syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal 22q11.2 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
21q partial trisomy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Trisomy 21- mitotic nondisjunction mosaicism survenue (attribut) True congénital Inferred relationship Some 2
21q partial distal trisomy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Translocation Down syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
infection rubéoleuse congénitale survenue (attribut) False congénital Inferred relationship Some 1
Endosteal hyperostoses with cerebellar hypoplasia survenue (attribut) True congénital Inferred relationship Some 6
Myeloid leukemia co-occurrent with Down syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Periodontitis co-occurrent with Down syndrome survenue (attribut) False congénital Inferred relationship Some 2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
20q13.33 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
20p12.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of short arm of chromosome 20 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
20q partial trisomy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
20p partial trisomy syndrome survenue (attribut) True congénital Inferred relationship Some 2
20q11.2 microduplication syndrome survenue (attribut) True congénital Inferred relationship Some 2
Distal trisomy 20q syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal monosomy 1q syndrome survenue (attribut) True congénital Inferred relationship Some 2
14q partial trisomy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
14q partial proximal trisomy syndrome survenue (attribut) True congénital Inferred relationship Some 2
14q partial distal trisomy syndrome survenue (attribut) True congénital Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
14q12 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Homozygous hereditary elliptocytosis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Adenosine deaminase 2 deficiency survenue (attribut) True congénital Inferred relationship Some 1
5p partial trisomy survenue (attribut) True congénital Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 survenue (attribut) True congénital Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 survenue (attribut) True congénital Inferred relationship Some 1
5q14.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Acute sequestration of spleen due to sickle cell thalassemia with crisis (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Acute splenic sequestration due to sickle cell hemoglobin C disease with crisis survenue (attribut) True congénital Inferred relationship Some 3
syndrome de microdélétion 16p11.2 proximale survenue (attribut) True congénital Inferred relationship Some 2
22q11 partial monosomy syndrome survenue (attribut) False congénital Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Chromosome Xp11.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Chromosome Xp22.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
16p11.2p12.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome de microdélétion 16p13.11 survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 survenue (attribut) True congénital Inferred relationship Some 2
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 survenue (attribut) True congénital Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 1
Congenital chondrolysis survenue (attribut) True congénital Inferred relationship Some 1
Supernumerary bone of foot (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital anomaly of blood vessel of spine (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital dilatation of common bile duct (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cystic dysplasia of kidney (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Cystic dysplasia of kidney (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Supernumerary eye muscle survenue (attribut) True congénital Inferred relationship Some 1
Oligosaccharidosis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Combined deficiency of sialidase AND beta galactosidase survenue (attribut) True congénital Inferred relationship Some 3
Combined deficiency of sialidase AND beta galactosidase survenue (attribut) True congénital Inferred relationship Some 4
Choroideremia with deafness and obesity syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Choroideremia with deafness and obesity syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Chromosome Xq27.3q28 duplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3

Start Previous Page 72 of 326 Next End

This concept is not in any reference sets

Back to Start