21390004: Developmental anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
utvecklingsabnormitet	Is a	kongenital anomali	false	Inferred relationship	Some
utvecklingsabnormitet	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malformation of tongue, mouth and pharynx	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Prader-Willis syndrom med diabetes	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Dicheirus (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Parasitic twin of asymmetrical conjoined twins (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
kongenital dysplasi	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
Lymphatic malformation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Posterior sagittal anorectoplasty	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Opodidymus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Lowe syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital malformation of ovaries and fallopian tubes	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital malformation of ovaries and fallopian tubes	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Grafting of palate for cleft palate repair (procedure)	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Removal of colorectal septum	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Removal of colorectal septum	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Wildervanck syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
foster eller nyfödd som påverkats av alkohol som överförts via placenta eller bröst	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Fetal warfarin syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Lymphangioma circumscriptum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Pena-Shokeir syndrome type I (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
medfödda missbildningssyndrom med störd metabolism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Fetal benzodiazepine syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Dicephalus dipus tribrachius	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Marshall syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Alobar holoprosencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Omphaloangiopagus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Holoprosencephaly sequence	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
bitemporala ärr med onormala ögonfransar	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
foster med avsaknad av öppningar i kraniet	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Moore-Federman syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital malformation due to cytotoxic agents	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Leprechaunism syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital malformation syndromes associated with short stature	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Fetal methyl mercury syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Bardet-Biedl syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Dipygus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
fetalt kaptopril-/enalaprilsyndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Exstrophy of bladder sequence	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
medfödd utebliven fusion	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
Congenital septation	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
Ivemarks syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Rutland ciliary disorientation syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Anencephalus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lymphangiomatosis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital lymphangioma	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Blomstrand dysplasia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Double artery	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
embryopati orsakad av A-vitamin	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Dysmorphism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Neu-Laxova syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
lymangiektasi	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cohen syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
First arch syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
neurologisk typ av kreatinism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Sporadic cretinism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Levy-Hollister syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Fetal misoprostol syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital hypothyroidism with diffuse goitre	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Ochoa syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
kranioorbitookulärt dysrafisyndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hemianencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malformation syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Noonan's syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Young's syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
V-Y anoplasty	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Oto-palato-digital syndrome, type I	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Klippels sjukdom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Langer-Giedion syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Langer-Giedion syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
hypertermiinducerad defekt	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Arterial malformation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Anakatadidymus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Schwartz syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Fetal or neonatal effect of maternal alcohol addiction (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Percutaneous transluminal ablation of congenital heart malformation	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oral-facial-digital syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Oral-facial-digital syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Ethmocephalus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Ataxia-telangiectasia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Aase syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Cardio-acral-facial syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
kongenital protrusion	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
missbildningsassociation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Smith-Magenis syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Diprosopus tetrophthalmus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Rubinstein-Taybi syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Decompression of imperforate anus	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cavernous lymphangioma of skin	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Laurence-Moon syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Immotile cilia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
medfött missbildningssyndrom orsakat av känd exogen faktor	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
cryptodidymus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Warburg syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Fetal or neonatal effect of maternal use of alcohol	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Autositic twin of asymmetrical conjoined twins (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Syncephalus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190336012	Developmental malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190337015	Developmental defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190338013	Dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190339017	Anomalous formation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190340015	Abnormal development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190341016	Malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
41911000052118	utvecklingsabnormitet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)