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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
412903018 Congenital malformation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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
356251000195118 malformazione congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
13091001000110 Angeborene Fehlbildung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
81891000077110 malformation congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
81891000077110 malformation congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
356251000195118 malformazione congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
13091001000110 Angeborene Fehlbildung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8276 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 (core metadata concept)
Congenital malformation Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation Is a Congenital anomaly false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation Is a Developmental disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
McCauley operation Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
arthroplastie secondaire de la hanche pour correction d'une malformation congénitale Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Metatarsal osteotomy for correction of congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Division of constricting band on limb Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Centralisation carpus correction for radial club hand Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 4
Primary osteotomy of pelvis for correction of congenital deformity of hip (procedure) Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Release of pantalar joints for correction congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
Heyman operation (procedure) Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
Brockman operation Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteotomy of body of os calcis for correction congenital deformity of foot (procedure) Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 4
Repair of persistent cloaca with lengthening of vagina (procedure) Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
Correction of congenital deformity of great vessels Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Correction of obstetric palsy Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
Turco operation Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
Correction of congenital absence of radius Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 4
Proximal femoral osteotomy for correction of congenital dislocation of the hip Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelvic osteotomy for congenital dislocation of the hip Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary correction of congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
Medial release of joints of foot for correction of congenital deformity of foot (procedure) Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 5
Repair of claw toe (procedure) Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
Wedge tarsectomy for correction congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 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 (core metadata concept) 5
Correction of curly fifth toe Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
Correction of clubfoot (procedure) Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Correction of congenital deformity of hindfoot (procedure) Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
Correction of congenital deformity of shoulder or upper arm Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
Anterior release of joints of foot for correction of congenital deformity of foot Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
Correction of congenital deformity of forearm (procedure) Has focus False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary elliptocytosis Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Mullerian aplasia Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Hypopigmentation-immunodeficiency disease Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Situs inversus viscerum Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome 2q37 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation caused by valproic acid Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
11p15 duplication syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
17q23.1-q23.2 duplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
17q24-qter duplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
20p12.2 deletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
3p25.3 deletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
5q22.2 deletion syndrome Is a False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
9p24.3 deletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
9q34 deletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
7p partial monosomy Is a False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Is a False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of lymphatic system of cervicofacial region (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Paternal 14q32.2 microdeletion (disorder) Is a False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary hypertension due to developmental abnormality (disorder) Due to True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ventriculomegaly due to developmental anomaly Due to True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
17q11 deletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Congenital elephantiasis Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Distal 7q11.23 microduplication syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Distal trisomy 7p syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
1p36 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
1q21.1 microdeletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
22q13.3 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 22 syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 20 syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary endothelial dystrophy Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Distal trisomy 20q syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xp11.3 microdeletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Distal 16p11.2 microdeletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
FRAXE intellectual disability syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 7p syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
7p12-p14 deletion syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
7p21.1 deletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Distal 7q11.23 microdeletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 10 syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
12q15q21.1 microdeletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
15q11.2 microdeletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
15q13.3 microdeletion Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Isodicentric chromosome 15 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
15q13.3 microduplication syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
15q11q13 microduplication syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
16q24.1 microdeletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome 16p11.2 deletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 16 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Proximal 16p11.2 microduplication syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
2q24 microdeletion syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 18 syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
13q partial monosomy syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 13, meiotic nondisjunction Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Oculootodental syndrome Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Color Doppler ultrasound with spectral display for congenital anomaly Has focus True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of craniovertebral junction (disorder) Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Correction of congenital anomaly (procedure) Has focus True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Situs ambiguus Is a True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
Screening for congenital malformation Has focus True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
Antenatal screening for malformation (procedure) Has focus True Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2

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