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
A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Bloom syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Associated morphology	False	dysgenese	Inferred relationship	Some	3
VACTEL syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Larsen syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Single stage epispadias repair	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Multiple malformation syndrome, small stature, without skeletal dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Endemic cretinism	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pygodidymus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital transposition of stomach	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Nager syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Nager syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Multiple malformation syndrome due to non-infectious environmental agents	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Osteochondrodysplasia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Second stage of two-stage epispadias repair	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Anencephalus og lignende anomalier	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anadidymus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Persistent cerebral embryonic artery	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum	Direct morphology	False	dysgenese	Inferred relationship	Some	4
Agnathus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
misfoster	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Enkelt misfoster	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Ruvalcaba-Myhres syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ruvalcaba-Myhres syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	3
First stage of two-stage epispadias repair	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Ruvalcaba syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ruvalcaba syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital iodine deficiency syndrome of neurological type (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenit abnorm sammenvoksning	Is a	False	dysgenese	Inferred relationship	Some
Incomplete anencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Oral lymphangioma	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital hypothyroidism without goitre	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Misdannelsesdefektspektrum	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Thalidomide embryopathy syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenit vaskulær anomali	Is a	False	dysgenese	Inferred relationship	Some
Shprintzens syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Thoracodidymus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Mietens syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Mietens syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Otocephalic syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Macropalpebral fissure	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital pulmonary lymphangiectasis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Gastrothoracopagus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Rothmund-Thomson syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Synotus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fetal primidone syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital malformation of lymphatic vessel of skin (disorder)	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	4
Franceschetti-Kleins syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenit kavitation	Is a	False	dysgenese	Inferred relationship	Some
Venous-lymphatic malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Heterodymus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
VATER association	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Immotile cilia syndrome due to defective radial spokes	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Persistence of primitive artery	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Fetal carbamazepine syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Diffuse lymphangioma	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Facio-auriculo-vertebral spectrum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Cephalodymus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenit abnorm kommunikation	Is a	False	dysgenese	Inferred relationship	Some
Dicephalus dipus tetrabrachius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Celosomus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Duhamel's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Fetal valproate syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Abdominosacroperineal pull-through	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cutback of covered anus	Direct morphology	False	dysgenese	Inferred relationship	Some	3
Distichiasis-lymphedema syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dobbelt misfoster	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Systemic lymphangiomatosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Monocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital malformation of uterus and cervix	Associated morphology	False	dysgenese	Inferred relationship	Some	3
foster med misdannelse af centralnervesystemet, barn født	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Janiceps	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hajdu-Cheney syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fetal toluene syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Multiple system malformation syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Cleft palate lateral synechia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pallister-Hall syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Gastrothoracopagus dipygus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dicephalic parapagus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Zellweger syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Sacroperineal pull-through	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Foster med misdannelse i centralnervesystemet	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Derencephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trillinge-misfoster	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Monocephalus tetrapus dibrachius	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital malformation of tongue, mouth and pharynx (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation of tongue, mouth and pharynx (disorder)	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)