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276654001: Congenital malformation (disorder)

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

Descriptions:

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

8276 descendants. Search Descendants:

Expanded Value Set

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

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