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
Andersen Tawil syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Andersen Tawil syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Mirror imaged atria	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital superior sulcus anomaly of orbit	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Cervical, vaginal and external female genital anomalies	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Cervical, vaginal and external female genital anomalies	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Cervical, vaginal and external female genital anomalies	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others.	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Colonna osteotomy for congenital deformity of hip	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Reversal rotation-plasty of ankle	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Wedge tarsectomy for correction congenital deformity of foot	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Isomerism of left atrial appendage (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
A rare heterotaxia characterised by complex congenital heart malformations and abnormal lateralisation of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor.	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Soft tissue release for correction of congenital deformity of midfoot (procedure)	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Correction of tibial pseudoarthrosis by excision and bone lengthening	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital lower lip pits (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Correction of tibial pseudoarthrosis by free fibula graft	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	4
Primary osteotomy of pelvis for correction of congenital deformity of hip	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Creation of tibiofibular synostosis	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital vesicoureterorenal reflux (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Craniolacunia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital spondylolysis of lumbosacral region	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Intra-articular soft tissue procedure for congenital dislocation of the hip	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Shelf procedure for congenital dislocation of the hip	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	2
Cobb's syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Repair of congenital pseudoarthrosis of tibia	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Femoral osteotomy for correction of congenital deformity of hip	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	2
Osteotomy of ilium for correction of congenital deformity of hip	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Correction of congenital deformity of shoulder or upper arm	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ectodermal dysplasia with hair-nail defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Correction of congenital cardiovascular deformity (procedure)	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	2
L'Episcopo operation for obstetric palsy (procedure)	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	2
Tricho-oculodermovertebral syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Congenital abduction contracture of hip	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital neuropathy with arthrogryposis multiplex congenita	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Blepharophimosis syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Periodontitis co-occurrent with Cohen syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital occlusion of iliac vein	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Hooded penis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital macular corneal dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Lattice corneal dystrophy, isolated form	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital occlusion of coronary sinus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital malformation caused by cytotoxic agents (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital occlusion of femoral vein (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ectodermal dysplasia with hair-nail defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Tricho-oculodermovertebral syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital pulmonary venous atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital systemic venous atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Craniotabes	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Acute respiratory distress in newborn with surfactant disorder	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Genetic disorder of surfactant dysfunction	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital saddle nose (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Closure of coronary sinus atrial septal defect	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Hypertelorism	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Bilateral unstable hip	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Congenital trigger thumb	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital malformation syndromes affecting facial appearance	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Patching of coronary sinus atrial septal defect	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	3
Caliber persistent labial artery (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Bowen-Conradi syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Cole disease	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
KBG syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital asymmetry of jaw (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Acral peeling skin syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Abnormal form of temporomandibular joint fossa	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Abnormal form of articular disk of temporomandibular joint	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital trigger finger and trigger thumb	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Mandibulofacial dysostosis with microcephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Concordant ventriculoarterial connection with parallel great arteries	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Bronchial atresia with segmental pulmonary emphysema	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Cleft of hard palate and cleft lip (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Parkes Weber syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Cleft palate and bilateral cleft lip (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Cleft of soft palate and cleft lip (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Cleft hard and soft palate with cleft lip	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Lethal tight skin contracture syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Cleft of soft palate and bilateral cleft lip (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Anomaly of eye (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital valgus deformity of foot	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Talipes calcaneovalgus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Talipes planovalgus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital malposition of talus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital vertical talus (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital convex pes valgus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital varus ankle	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital valgus ankle	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital rearfoot valgus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital forefoot valgus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Talipes equinocavovarus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital thickening of radius	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital thickening of tibia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital thickening of ulna	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital pulmonary arteriovenous aneurysm	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