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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
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 7
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Some 6
Iniencephaly - open Occurrence True Congenital Inferred relationship Some 5
Parachute malformation of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Congenital microcephaly Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence True Congenital Inferred relationship Some 1
Amish lethal microcephaly Occurrence True Congenital Inferred relationship Some 1
Achalasia microcephaly syndrome Occurrence True Congenital Inferred relationship Some 2
3-phosphoglycerate dehydrogenase deficiency infantile form Occurrence True Congenital Inferred relationship Some 3
Hitch-hiker thumb Occurrence True Congenital Inferred relationship Some 1
Dysmorphic sialidosis, congenital form Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Occurrence True Congenital Inferred relationship Some 5
Congenital hydronephrosis due to ureteral obstruction Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis due to bladder obstruction Occurrence True Congenital Inferred relationship Some 1
Congenital retinoschisis Occurrence True Congenital Inferred relationship Some 2
Congenital retinoschisis Occurrence True Congenital Inferred relationship Some 1
Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia Occurrence True Congenital Inferred relationship Some 2
Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis due to ureteral orifice obstruction Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant sideroblastic anaemia Occurrence True Congenital Inferred relationship Some 1
Haemoglobin C beta thalassaemia Occurrence True Congenital Inferred relationship Some 1
Congenital microencephaly Occurrence True Congenital Inferred relationship Some 1
Haemoglobin Paksé disease Occurrence True Congenital Inferred relationship Some 2
Haemoglobin Seal Rock disease Occurrence True Congenital Inferred relationship Some 2
Congenital pigmented melanocytic naevus of skin of right ear Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic naevus of skin of left ear Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic naevus of skin of lip Occurrence True Congenital Inferred relationship Some 1
Microcephaly with cervical spine fusion anomaly Occurrence True Congenital Inferred relationship Some 2
Microcephaly with simplified gyral pattern Occurrence True Congenital Inferred relationship Some 2
Infection of urachal sinus Occurrence True Congenital Inferred relationship Some 2
Infection of urachal remnant Occurrence True Congenital Inferred relationship Some 2
Infection of urachal sinus Occurrence True Congenital Inferred relationship Some 1
MacDermot Winter syndrome Occurrence True Congenital Inferred relationship Some 2
MacDermot Winter syndrome Occurrence True Congenital Inferred relationship Some 3
Curry-Hall syndrome Occurrence True Congenital Inferred relationship Some 5
7q partial trisomy Occurrence True Congenital Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
Non-distal monosomy 10q Occurrence True Congenital Inferred relationship Some 3
Distal monosomy 10q syndrome Occurrence True Congenital Inferred relationship Some 1
2q23.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
7q11.23 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 3
Proximal deletion of long arm of chromosome 10 Occurrence True Congenital Inferred relationship Some 2
7p partial trisomy Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 7p syndrome Occurrence True Congenital Inferred relationship Some 2
7p22.1 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
1p21.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 2
1q44 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
1q41q42 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 2
22q13.3 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
Distal 22q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
22q partial trisomy Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 22q syndrome Occurrence True Congenital Inferred relationship Some 2
Distal 22q11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
21q partial trisomy Occurrence True Congenital Inferred relationship Some 2
Trisomy 21- mitotic nondisjunction mosaicism Occurrence True Congenital Inferred relationship Some 2
21q partial distal trisomy Occurrence True Congenital Inferred relationship Some 2
Translocation Down syndrome Occurrence True Congenital Inferred relationship Some 2
Endosteal hyperostoses with cerebellar hypoplasia Occurrence True Congenital Inferred relationship Some 6
Myeloid leukaemia co-occurrent with Down syndrome Occurrence True Congenital Inferred relationship Some 2
Periodontitis co-occurrent with Down syndrome Occurrence False Congenital Inferred relationship Some 2
Paternal 20q13.2q13.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 Occurrence True Congenital Inferred relationship Some 1
20q13.33 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
20p12.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 20 Occurrence True Congenital Inferred relationship Some 1
20q partial trisomy Occurrence True Congenital Inferred relationship Some 2
20p partial trisomy syndrome Occurrence True Congenital Inferred relationship Some 2
20q11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 20q syndrome Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 1q syndrome Occurrence True Congenital Inferred relationship Some 2
14q partial trisomy Occurrence True Congenital Inferred relationship Some 2
14q partial proximal trisomy syndrome Occurrence True Congenital Inferred relationship Some 2
14q partial distal trisomy syndrome Occurrence True Congenital Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 Occurrence True Congenital Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 Occurrence True Congenital Inferred relationship Some 1
14q12 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Homozygous hereditary elliptocytosis Occurrence True Congenital Inferred relationship Some 1
Adenosine deaminase 2 deficiency Occurrence True Congenital Inferred relationship Some 1
5p partial trisomy Occurrence True Congenital Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 1
5q14.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Acute splenic sequestration of spleen due to sickle cell thalassaemia with crisis Occurrence True Congenital Inferred relationship Some 3
Acute splenic sequestration due to sickle cell haemoglobin C disease with crisis Occurrence True Congenital Inferred relationship Some 3
Proximal 16p11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
22q11 partial monosomy syndrome Occurrence False Congenital Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 Occurrence True Congenital Inferred relationship Some 1
Chromosome Xp11.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Xp22.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
16p11.2p12.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
16p13.11 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Occurrence True Congenital Inferred relationship Some 2
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital chondrolysis Occurrence True Congenital Inferred relationship Some 1
Supernumerary bone of foot Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of blood vessel of spine Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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