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
Syncephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Escobar syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Marshall-Smith syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Male epispadias repair	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Multiple malformation syndrome with early overgrowth	Associated morphology	False	dysgenese	Inferred relationship	Some	1
foster med misdannelse af centralnervesystemet med prænatalt problem	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital iodine deficiency syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Omocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Orofacial-digital syndrome III	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Derodidymis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dithoracic parapagus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Myxedematous form of cretinism	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital iodine deficiency syndrome of mixed type (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dipodia	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Grob's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Laterality sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	1
X-linked hydrocephalus syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Correction of congenital anorectal malformation	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Werner syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Polysomatøst misfoster	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Segmental lymphangiomatosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Caylers kardiofaciale syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Common atrioventricular orifice in double inlet ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
MVRCS association	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Neonatal osteosclerotic dysplasia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Frontonasal dysplasia sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Thoracoparacephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
FG syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
FG syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Hecht syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Oculofaciocardiodental syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Athyrotic hypothyroidism sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Biemond's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenit sekvestration	Is a	False	dysgenese	Inferred relationship	Some
Townes syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Townes syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Robin sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Early urethral obstruction sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Multiple malformation syndrome with senile-like appearance	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Kenny syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Cardio-facio-cutaneous syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Diprosopus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Maternal PKU fetal effect	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dicephalus dipus dibrachius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Mulibrey nanism syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Multiple malformation syndrome with limb defect as major feature	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Cranial duplication	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fetal Alcohol Spectrum Disorder	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Misfoster med kranieanomalier	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Oculodentodigital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pygomelus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hemicardia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Semi-lobar holoprosencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
kutan lymfangiektasi	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of pupil	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Spondyloperipheral dysplasia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, Strudwick type	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Spondylocarpotarsal synostosis syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Genitopatellar syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
RAPADILINO syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Oculodento-osseous dysplasia - severe type	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Stickler syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Mohr syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Fragile X syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Larsen syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Johanson-Blizzard syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Jugular lymphatic obstruction sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. 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 are less severely affected.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Hallermann-Streiff syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Associated morphology	False	dysgenese	Inferred relationship	Some	5
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	5
Oral-facial-digital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Orofacial-digital syndrome III	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Schinzel-Giedion syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Chondroectodermal dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Oculodentodigital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Oculodentodigital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Oculodento-osseous dysplasia - mild type	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Oculodento-osseous dysplasia - mild type	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Miller syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Akrosyndaktyli i overekstremitet	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Aganglionosis of Auerbach's plexus	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Atrial septal defect through coronary sinus orifice	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Accessory tissue on truncal valve cusp	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right posterior open bite	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Left posterior open bite	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Agnathus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Synotus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Derencephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	3

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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)