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
dysgenese	Is a	kongenit anomali	false	Inferred relationship	Some
dysgenese	Is a	Morphologically abnormal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malformation of tongue, mouth and pharynx (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Royers syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dicheirus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Parasitic twin of asymmetrical conjoined twins (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenit dysplasi	Is a	False	dysgenese	Inferred relationship	Some
Lymphatic malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Posterior sagittal anorectoplasty	Direct morphology	False	dysgenese	Inferred relationship	Some	3
Opodidymus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Lowe syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital malformation of ovaries and fallopian tubes	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital malformation of ovaries and fallopian tubes	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Grafting of palate for cleft palate repair (procedure)	Direct morphology	False	dysgenese	Inferred relationship	Some	3
Removal of colorectal septum	Direct morphology	False	dysgenese	Inferred relationship	Some	4
Removal of colorectal septum	Direct morphology	False	dysgenese	Inferred relationship	Some	5
Wildervanck syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Foster eller nyfødt påvirket af placenta- eller brystoverførsel af alkohol	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Fetal warfarin syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Lymphangioma circumscriptum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Pena-Shokeir syndrome type I (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenitte misdannelsessyndromer med metaboliske forstyrrelser	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Fetal benzodiazepine syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dicephalus dipus tribrachius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Marshall syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Alobar holoprosencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Omphaloangiopagus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Holoprosencephaly sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bitemporale ar med abnorme øjenvipper	Associated morphology	False	dysgenese	Inferred relationship	Some	1
manglende åbninger i kraniet	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Moore-Federman syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital malformation caused by cytotoxic agents (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Leprechaunism syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital malformation syndromes associated with short stature	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Fetal methyl mercury syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Bardet-Biedl syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dipygus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Føtalt captopril-/enalaprilsyndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Exstrophy of urinary bladder sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	2
kongenit manglende sammenvoksning	Is a	False	dysgenese	Inferred relationship	Some
Congenital septation	Is a	False	dysgenese	Inferred relationship	Some
Ivemarks syndom	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Rutland ciliary disorientation syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Anencephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lymphangiomatosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital lymphangioma	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Blomstrand dysplasia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Double artery	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Retinoinsyreembryopati	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dysmorphism	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
lymfektasier	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cohen syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
First arch syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Neurologisk form af kretinisme	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Sporadic cretinism	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Levy-Hollister syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Fetal misoprostol syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital hypothyroidism with diffuse goitre	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Ochoa syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Kranio-orbito-okulært dysrafisyndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hemianencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Noonan's syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Young's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
V-Y anoplasty	Direct morphology	False	dysgenese	Inferred relationship	Some	3
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Klippels sygdom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Langer-Giedion syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Langer-Giedion syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Hypertermi-induceret defekt	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Arterial malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anakatadidymus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Schwartz' syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
foster eller nyfødt påvirket af maternel alkoholafhængighed	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Percutaneous transluminal ablation of congenital heart malformation	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Oral-facial-digital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Oral-facial-digital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Ethmocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Ataxia-telangiectasia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Aase syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Cardio-acral-facial syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenit protrusion	Is a	False	dysgenese	Inferred relationship	Some
Misdannelsesassociation	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Smith-Magenis syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Diprosopus tetrophthalmus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Rubinstein-Taybi syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Decompression of imperforate anus	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Cavernous lymphangioma of skin	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Laurence-Moons syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Immotile cilia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenit misdannelsessyndrom som følge af kendt ydre årsag	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Cryptodidymus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Walker-Warburgs syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
foster og nyfødt påvirket af moders brug af alkohol	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Autositic twin of asymmetrical conjoined twins (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Syncephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	1

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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
2614401000005117	dysgenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)