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
Developmental anomaly	Is a	Congenital anomaly	false	Inferred relationship	Some
Developmental anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Incomplete ossification of tympanic anulus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital hepatic fibrosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital tracheobronchomegaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Microglossia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Occult spinal dysraphism sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Occult spinal dysraphism sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Amyelia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Congenital macular changes	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Sporadic megalencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Nemaline myopathy, late onset type	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ear pit syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Malformation of throat	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of pelvic bones	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Encephalo-ophthalmic dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ji muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital anomaly of vas deferens	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital abnormality of hepatic vein (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital syringomyelia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Western type of congenital muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital malposition of metacarpal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Hereditary myopathy limited to females	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital epiblepharon-inferior oblique syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Café-au-lait macules with temporal dysrhythmia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital abnormal vertical shortness of eyelids	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Doubly committed subarterial ventricular septal defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Incomplete ossification of talus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Microgyria	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital aphakia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Atelomyelia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Hepatomphalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Camptodactyly-little finger (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Branchial cleft external sinus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ectopic pancreas in duodenum	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Congenital aplasia of inner ear	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Supernumerary centrum of lumbar vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Cryptophthalmos syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Spinobulbar atrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of neck	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Anomalies of cerebrum	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Anomalies of pancreas	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Duplication of fibula	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital malposition of spleen	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Rieger eye malformation sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Embryotoxon	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital hypoplasia of eye bulge	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital bent ilium	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Hydromeningocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Complete phocomelia of upper limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Talipomanus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Central polydactyly of fingers	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital malposition of lung	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Dwarf pelvis (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of eye	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Focal nodular hypoplasia of liver	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Radial polydactyly Wassel 1	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Paraspadias	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital anomaly of ulna (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Cleft cartilaginous centrum of thoracic vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Nemaline myopathy	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital cleft thyroid cartilage	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Benign congenital muscular dystrophy with finger flexion contractures	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital disorders of eye and eyelid movements	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital total cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital anomaly of rib cartilage	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital anomaly of peripheral nerve	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Lumbar spina bifida with hydrocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Lumbar spina bifida with hydrocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Congenital abnormality of systemic vein (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Neurofibromatosis type 2	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Abnormal lung lobation	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Bifid epiglottis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital anomaly of lacrimal gland	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital laryngomalacia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Incomplete ossification of arch of sacral vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Polydactyly of thumb	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of abdominal wall	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anterior polar cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Blepharophimosis syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Beckwith-Wiedemann syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Incomplete ossification of centrum of lumbar vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Pelvis plana	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital cystic disease of liver	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital diverticulum of bile duct	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital coloboma of optic disc	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Distal radioulnar synostosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Familial megalencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital contracted pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital abnormal long growth of bile duct	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Iniencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Iniencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Congenital anomaly of trachea	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital thickening of talus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital malposition of metatarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Failure of differentiation of bones of forearm	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of azygos vein	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Spina bifida of cervical region	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Spina bifida of cervical region	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4

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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