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276654001: Congenital malformation (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
412903018 Congenital malformation en Synonym Active Entire term case insensitive SNOMED CT core module
412904012 Fetal malformation en Synonym Active Entire term case insensitive SNOMED CT core module
412905013 CM - Congenital malformation en Synonym Active Entire term case sensitive SNOMED CT core module
669595015 Congenital malformation (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3006530018 Fetal developmental abnormality en Synonym Active Entire term case insensitive SNOMED CT core module
3006540015 Foetal developmental abnormality en Synonym Active Entire term case insensitive SNOMED CT core module
3006559018 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
3006590016 Congenital abnormality en Synonym Active Entire term case insensitive SNOMED CT core module
3011594016 Foetal malformation en Synonym Active Entire term case insensitive SNOMED CT core module

7850 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital malformation Is a Congenital disease false Inferred relationship Existential restriction modifier
Congenital malformation Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital malformation Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Congenital malformation Is a Congenital anomaly false Inferred relationship Existential restriction modifier
Congenital malformation Is a Congenital disease true Inferred relationship Existential restriction modifier
Congenital malformation Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital malformation Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Congenital malformation Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital malformation Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Congenital malformation Is a Developmental disorder true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
McCauley operation Has focus False Congenital malformation Inferred relationship Existential restriction modifier 3
Secondary arthroplasty of hip for correction of congenital deformity Has focus False Congenital malformation Inferred relationship Existential restriction modifier 2
Metatarsal osteotomy for correction of congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier 2
Division of constricting band on limb Has focus False Congenital malformation Inferred relationship Existential restriction modifier 2
Centralization carpus correction for radial club hand Has focus False Congenital malformation Inferred relationship Existential restriction modifier 4
Primary osteotomy of pelvis for correction of congenital deformity of hip Has focus False Congenital malformation Inferred relationship Existential restriction modifier 2
Release of pantalar joints for correction congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier 3
Heyman operation Has focus False Congenital malformation Inferred relationship Existential restriction modifier 1
Brockman operation Has focus False Congenital malformation Inferred relationship Existential restriction modifier 1
Osteotomy of body of os calcis for correction congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier 4
Repair of persistant cloaca with lengthening of vagina Has focus False Congenital malformation Inferred relationship Existential restriction modifier 3
Correction of congenital deformity of great vessels Has focus False Congenital malformation Inferred relationship Existential restriction modifier 2
Correction of obstetric palsy Has focus False Congenital malformation Inferred relationship Existential restriction modifier 1
Turco operation Has focus False Congenital malformation Inferred relationship Existential restriction modifier 3
Correction of congenital absence of radius Has focus False Congenital malformation Inferred relationship Existential restriction modifier 4
Proximal femoral osteotomy for correction of congenital dislocation of the hip Has focus False Congenital malformation Inferred relationship Existential restriction modifier 2
Pelvic osteotomy for congenital dislocation of the hip Has focus False Congenital malformation Inferred relationship Existential restriction modifier 1
Primary correction of congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier 3
Medial release of joints of foot for correction of congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier 5
Repair of claw toe Has focus False Congenital malformation Inferred relationship Existential restriction modifier 3
Wedge tarsectomy for correction congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier 2
Release of medial soft tissue of hindfoot and excision of lateral wedge of os calcis and fusion of os calcis Has focus False Congenital malformation Inferred relationship Existential restriction modifier 5
Correction of curly fifth toe Has focus False Congenital malformation Inferred relationship Existential restriction modifier 1
Correction of clubfoot Has focus False Congenital malformation Inferred relationship Existential restriction modifier 2
Correction of congenital deformity of hindfoot Has focus False Congenital malformation Inferred relationship Existential restriction modifier 3
Correction of congenital deformity of shoulder or upper arm Has focus False Congenital malformation Inferred relationship Existential restriction modifier 1
Anterior release of joints of foot for correction of congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier 1
Correction of congenital deformity of forearm Has focus False Congenital malformation Inferred relationship Existential restriction modifier 3
Hereditary elliptocytosis Is a True Congenital malformation Inferred relationship Existential restriction modifier
Mullerian aplasia Is a True Congenital malformation Inferred relationship Existential restriction modifier
Hypopigmentation-immunodeficiency disease Is a True Congenital malformation Inferred relationship Existential restriction modifier
Situs inversus viscerum Is a True Congenital malformation Inferred relationship Existential restriction modifier
Chromosome 2q37 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Congenital malformation caused by valproic acid Is a True Congenital malformation Inferred relationship Existential restriction modifier
11p15 duplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
17q23.1-q23.2 duplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
17q24-qter duplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
20p12.2 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
3p25.3 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
5q22.2 deletion syndrome Is a False Congenital malformation Inferred relationship Existential restriction modifier
9p24.3 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
9q34 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
7p partial monosomy Is a False Congenital malformation Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Is a False Congenital malformation Inferred relationship Existential restriction modifier
Congenital malformation of lymphatic system of cervicofacial region Is a True Congenital malformation Inferred relationship Existential restriction modifier
Paternal 14q32.2 microdeletion Is a False Congenital malformation Inferred relationship Existential restriction modifier
Pulmonary hypertension due to developmental abnormality Due to True Congenital malformation Inferred relationship Existential restriction modifier 2
Ventriculomegaly due to developmental anomaly Due to True Congenital malformation Inferred relationship Existential restriction modifier 2
17q11 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Congenital elephantiasis Is a True Congenital malformation Inferred relationship Existential restriction modifier
Distal 7q11.23 microduplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Distal trisomy 7p syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Chromosome 1p36 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
1p21.3 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
1q21.1 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Cat eye syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
22q13.3 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Complete trisomy 22 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Complete trisomy 21 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Complete trisomy 20 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Congenital hereditary endothelial dystrophy Is a True Congenital malformation Inferred relationship Existential restriction modifier
Distal trisomy 20q syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Chromosome Xp11.3 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Proximal 16p11.2 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Is a True Congenital malformation Inferred relationship Existential restriction modifier
Distal 16p11.2 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
FRAXF syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
FRAXE intellectual disability syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Distal monosomy 7p syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
7p12-p14 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
7p21.1 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Distal 7q11.23 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
7q31 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Mosaic trisomy 10 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Distal monosomy 12p Is a True Congenital malformation Inferred relationship Existential restriction modifier
12q15q21.1 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
15q11.2 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Microdeletion of chromosome 15q13.3 Is a True Congenital malformation Inferred relationship Existential restriction modifier
Isodicentric chromosome 15 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
15q13.3 microduplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
15q11q13 microduplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
16q24.1 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
16q24.3 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Chromosome 16p11.2 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Complete trisomy 16 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Proximal 16p11.2 microduplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
16p13.11 microduplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
16p11.2p12.2 microduplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
2q24 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Complete trisomy 18 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Trisomy 13, meiotic nondisjunction Is a True Congenital malformation Inferred relationship Existential restriction modifier
Trisomy 13 - mitotic nondisjunction mosaicism Is a True Congenital malformation Inferred relationship Existential restriction modifier
Oculootodental syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier
Color Doppler ultrasound with spectral display for congenital anomaly Has focus True Congenital malformation Inferred relationship Existential restriction modifier 2
Congenital anomaly of craniovertebral junction Is a True Congenital malformation Inferred relationship Existential restriction modifier
Correction of congenital anomaly Has focus True Congenital malformation Inferred relationship Existential restriction modifier 2
Situs ambiguus Is a True Congenital malformation Inferred relationship Existential restriction modifier
Screening for congenital malformation Has focus True Congenital malformation Inferred relationship Existential restriction modifier 2
Antenatal screening for malformation Has focus True Congenital malformation Inferred relationship Existential restriction modifier 2

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