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 eye, ear and neck	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital malformation of eye, ear and neck	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Platyspondylia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital bent radius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Kongenit komplet underudvikling af underekstremitet	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of scapula	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Rudimentær arm	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital nuclear ophthalmoplegia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
An inherited neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Incomplete ossification of metacarpal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Incomplete ossification of scapula	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Juvenile pelvis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of cervical vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Rieger syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Supernumerary centrum of sacral vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete ossification of hyoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pelvis justo minor (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Extralobar bronchopulmonary sequestration	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalies of hypothalamus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of lip	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Complete aphalangia of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cervical spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Cervical spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of ossicles of ear	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Muscular ventricular septal defect in apical trabecular septum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Reduction deformity of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Spina bifida aperta of lumbar spine (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Spina bifida aperta of lumbar spine (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	5
letalt hvidt syndrom hos føl	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cervical auricle	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Pulmonary atresia with ventricular septal defect of Fallot type (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ectopic bone and cartilage in lung	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Rotational orbital dystopia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Synechia vulvae	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Underudvikling af overekstremitet	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Abnormal liver lobulation	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete ossification of premaxilla	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Partial aphalangia of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malposition of ovary	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Camptodactyly	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital laryngeal abductor palsy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of male genital system	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Duane's syndrome, type 3	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cervical thymic remnant	Associated morphology	False	dysgenese	Inferred relationship	Some	3
synsnervepapilhul	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Type 1 lissencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital cerebral meningocele	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Cerebro-oculo-facio-skeletal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
kongenit multipel artrogrypose	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Macrophthalmos	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital spade-like hand	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ear, face and neck congenital anomalies	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ear, face and neck congenital anomalies	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ear, face and neck congenital anomalies	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of subcutaneous tissue	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Thyroglossal duct sinus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Low set ears	Associated morphology	False	dysgenese	Inferred relationship	Some	2
testikulær dysgenese	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Supernumerary lacrimal punctum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Myotubular myopathy with type I atrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare neural tube defect with characteristics of cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare neural tube defect with characteristics of cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Talipes equinus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Optic disc structural anomaly (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital corneal keloid (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Lack of ossification of hyoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Myelinated nerve fibers of optic disc	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Oculodento-osseous dysplasia - mild type	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of ear with impairment of hearing	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Clinodactyly with delta phalanx	Associated morphology	False	dysgenese	Inferred relationship	Some	2
kongenit neuropati med kongenit multipel artrogrypose	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Status marmoratus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of metatarsal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Muscle eye brain disease	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Gastroschisis	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital thickening of radius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete ossification of arch of cervical vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital overgrowth of distal lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Doubly committed subarterial ventricular septal defect with membranous septum extension	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Split spinal cord malformation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	False	dysgenese	Inferred relationship	Some	1
hemicentrisk centrum i sakralhvirvels corpus vertebrae	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Radioulnar dysostosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lumbar spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Lumbar spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Spina bifida of sacral region (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Spina bifida of sacral region (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Persistent thyroglossal duct	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Encephalocele of orbit	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of blood vessel of upper limb (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trilobular liver	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Peutz-Jeghers polyps of small bowel	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital degeneration of nervous system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
mirror hands	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital lip pits	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital lateral curvature of penis	Associated morphology	False	dysgenese	Inferred relationship	Some	4
X-linked muscular dystrophy with abnormal dystrophin	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)