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276654001: Congenital malformation (disorder)

Status: current, Defined. Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

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

7797 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital anomaly Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly Is a Developmental disorder true Inferred relationship Some
Congenital anomaly Associated morphology Congenital malformation false Inferred relationship Some
Congenital anomaly Is a Congenital anomaly false Inferred relationship Some
Congenital anomaly Is a Congenital disease true Inferred relationship Some
Congenital anomaly Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly Associated morphology Developmental abnormality false Inferred relationship Some 1
Congenital anomaly Occurrence Congenital false Inferred relationship Some
Congenital anomaly Is a Congenital disease false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Correction of congenital deformity of hindfoot Has focus False Congenital anomaly Inferred relationship Some 3
Correction of congenital deformity of shoulder or upper arm Has focus False Congenital anomaly Inferred relationship Some 1
Anterior release of joints of foot for correction of congenital deformity of foot Has focus False Congenital anomaly Inferred relationship Some 1
Correction of congenital deformity of forearm Has focus False Congenital anomaly Inferred relationship Some 3
Hereditary elliptocytosis Is a True Congenital anomaly Inferred relationship Some
Mullerian aplasia Is a True Congenital anomaly Inferred relationship Some
Hypopigmentation-immunodeficiency disease Is a True Congenital anomaly Inferred relationship Some
Situs inversus viscerum Is a True Congenital anomaly Inferred relationship Some
Chromosome 2q37 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
Congenital malformation caused by valproic acid Is a True Congenital anomaly Inferred relationship Some
11p15 duplication syndrome Is a True Congenital anomaly Inferred relationship Some
17q23.1-q23.2 duplication syndrome Is a True Congenital anomaly Inferred relationship Some
17q24-qter duplication syndrome Is a True Congenital anomaly Inferred relationship Some
20p12.2 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
3p25.3 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
5q22.2 deletion syndrome Is a False Congenital anomaly Inferred relationship Some
9p24.3 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
9q34 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
7p partial monosomy Is a False Congenital anomaly Inferred relationship Some
22q11.2 duplication syndrome Is a False Congenital anomaly Inferred relationship Some
Congenital malformation of lymphatic system of cervicofacial region Is a True Congenital anomaly Inferred relationship Some
Paternal 14q32.2 microdeletion Is a False Congenital anomaly Inferred relationship Some
Pulmonary hypertension due to developmental abnormality Due to True Congenital anomaly Inferred relationship Some 2
Ventriculomegaly due to developmental anomaly Due to True Congenital anomaly Inferred relationship Some 2
Correction of congenital megaprepuce Has focus False Congenital anomaly Inferred relationship Some 730685311
Repair of penoscrotal transposition Has focus False Congenital anomaly Inferred relationship Some 2046078968
Repair of jejunal atresia Has focus False Congenital anomaly Inferred relationship Some 536793069
Repair of persistent cloaca Has focus False Congenital anomaly Inferred relationship Some 426968385
17q11 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
Congenital elephantiasis Is a True Congenital anomaly Inferred relationship Some
Distal 7q11.23 microduplication syndrome Is a True Congenital anomaly Inferred relationship Some
Distal trisomy 7p syndrome Is a True Congenital anomaly Inferred relationship Some
1p36 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
1p21.3 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
1q21.1 microdeletion Is a True Congenital anomaly Inferred relationship Some
Cat eye syndrome Is a True Congenital anomaly Inferred relationship Some
22q13.3 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
Complete trisomy 22 syndrome Is a True Congenital anomaly Inferred relationship Some
Complete trisomy 21 syndrome Is a True Congenital anomaly Inferred relationship Some
Complete trisomy 20 syndrome Is a True Congenital anomaly Inferred relationship Some
Congenital hereditary endothelial dystrophy Is a True Congenital anomaly Inferred relationship Some
Distal trisomy 20q syndrome Is a True Congenital anomaly Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
Proximal 16p11.2 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Is a True Congenital anomaly Inferred relationship Some
Distal 16p11.2 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
FRAXF syndrome Is a True Congenital anomaly Inferred relationship Some
FRAXE intellectual disability syndrome Is a True Congenital anomaly Inferred relationship Some
Distal monosomy 7p syndrome Is a True Congenital anomaly Inferred relationship Some
7p12-p14 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
7p21.1 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
Distal 7q11.23 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
7q31 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
Mosaic trisomy 10 Is a True Congenital anomaly Inferred relationship Some
Distal monosomy 12p Is a True Congenital anomaly Inferred relationship Some
12q15q21.1 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
15q11.2 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
Microdeletion of chromosome 15q13.3 Is a True Congenital anomaly Inferred relationship Some
Duplication/inversion 15q11 Is a True Congenital anomaly Inferred relationship Some
15q13.3 microduplication syndrome Is a True Congenital anomaly Inferred relationship Some
15q11q13 microduplication syndrome Is a True Congenital anomaly Inferred relationship Some
16q24.1 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
16q24.3 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
Chromosome 16p11.2 deletion syndrome Is a True Congenital anomaly Inferred relationship Some
Complete trisomy 16 syndrome Is a True Congenital anomaly Inferred relationship Some
Proximal 16p11.2 microduplication syndrome Is a True Congenital anomaly Inferred relationship Some
16p13.11 microduplication syndrome Is a True Congenital anomaly Inferred relationship Some
16p11.2p12.2 microduplication syndrome Is a True Congenital anomaly Inferred relationship Some
2q24 microdeletion syndrome Is a True Congenital anomaly Inferred relationship Some
Complete trisomy 18 syndrome Is a True Congenital anomaly Inferred relationship Some
13q partial monosomy syndrome Is a True Congenital anomaly Inferred relationship Some
Trisomy 13, meiotic nondisjunction Is a True Congenital anomaly Inferred relationship Some
Trisomy 13 - mitotic nondisjunction mosaicism Is a True Congenital anomaly Inferred relationship Some
Oculootodental syndrome Is a True Congenital anomaly Inferred relationship Some
PMP22-RAI1 contiguous gene duplication syndrome Is a True Congenital anomaly Inferred relationship Some
Colour Doppler ultrasound with spectral display for congenital anomaly Has focus True Congenital anomaly Inferred relationship Some 2
Congenital anomaly of craniovertebral junction Is a True Congenital anomaly Inferred relationship Some
Correction of congenital anomaly Has focus True Congenital anomaly Inferred relationship Some 2
Situs ambiguus Is a True Congenital anomaly Inferred relationship Some
Screening for congenital malformation Has focus True Congenital anomaly Inferred relationship Some 2
Antenatal screening for malformation Has focus True Congenital anomaly Inferred relationship Some 2
Lymphatic malformation Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of artery Is a False Congenital anomaly Inferred relationship Some
Venous malformation Is a False Congenital anomaly Inferred relationship Some
Congenital stenosis of cervical canal Is a False Congenital anomaly Inferred relationship Some
Accessory spleen Is a False Congenital anomaly Inferred relationship Some
Agenesis of punctum lacrimale Is a False Congenital anomaly Inferred relationship Some
Fistula of branchial cleft Is a False Congenital anomaly Inferred relationship Some
Congenital uterointestinal fistula Is a False Congenital anomaly Inferred relationship Some
Congenital absence of pituitary gland Is a False Congenital anomaly Inferred relationship Some
Accessory pituitary gland Is a False Congenital anomaly Inferred relationship Some
Aberrant parathyroid gland Is a False Congenital anomaly Inferred relationship Some
Kohlschutter's syndrome Is a False Congenital anomaly Inferred relationship Some
Neuronal choristoma Is a False Congenital anomaly Inferred relationship Some
Bifid nail Is a False Congenital anomaly Inferred relationship Some
Congenital absence of nose Is a False Congenital anomaly Inferred relationship Some
Congenital absence of breast Is a False Congenital anomaly Inferred relationship Some
Congenital rectovaginal fistula Is a False Congenital anomaly Inferred relationship Some
Congenital absence of vulva Is a False Congenital anomaly Inferred relationship Some
Agenesis of nerve Is a False Congenital anomaly Inferred relationship Some
Congenital fistula of auricle Is a False Congenital anomaly Inferred relationship Some

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Reference Sets

Emergency department reference set

Australian emergency department reference set

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