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
anomalie du développement	Is a	anomalie congénitale	false	Inferred relationship	Some
anomalie du développement	Is a	Morphologically abnormal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bilateral congenital deformity of lower limbs	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Bilateral congenital deformity fingers	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Bilateral congenital deformity fingers	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Congenital deformity of right finger	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital deformity of right upper limb (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital deformity of left finger	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital deformity of right lower limb	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital anomaly of cardiac chamber (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Alstrom syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Incomplete ossification of ilium	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Incomplete ossification of ischium	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Incomplete ossification of pubis	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Lack of ossification of pubis	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Incomplete ossification	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Lack of ossification of ischium	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital left vesicoureterorenal reflux	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital left vesicoureterorenal reflux	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Congenital right vesicoureterorenal reflux	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Congenital right vesicoureterorenal reflux	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apneic episodes, recurrent respiratory infections).	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital occlusion of anus	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Otopalatodigital syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Otopalatodigital syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Hereditary benign acanthosis nigricans	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Darier disease	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Acral Darier's disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Palmar pitting due to Darier disease	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Congenital instability of right hip joint	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Acrokeratosis verruciformis of Darier disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Congenital instability of left hip joint	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Flexural Darier's disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Hypertrophic Darier's disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Linear/nevoid/zosteriform Darier's disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Hereditary benign acanthosis nigricans with insulin resistance	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
A single anterior tooth pair is in crossbite and is also impinging on the soft tissue, resulting in destruction of the oral mucosa adjacent to one or both teeth involved.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Modified Johanson operation for claw toe with arthrodesis	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Repair of claw toe	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Correction of congenital deformity of hindfoot (procedure)	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Primary correction of congenital deformity of foot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Release of pantalar joints for correction congenital deformity of foot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
McCauley operation	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Soft tissue release for correction of congenital deformity of hindfoot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	3
Posterior release of joints of foot for correction of congenital deformity of foot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	1
Posteromedial release of calcaneotalar equinovarus	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Lateral release for congenital deformity of foot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Correction of congenital vertical talus	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Release of subtalar joint for correction congenital deformity of foot (procedure)	Direct morphology	False	anomalie du développement	Inferred relationship	Some	1
Correction of clubfoot (procedure)	Direct morphology	False	anomalie du développement	Inferred relationship	Some	1
Tendon transfer and arthrodesis to correct claw toe	Direct morphology	False	anomalie du développement	Inferred relationship	Some	4
Turco operation	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Osteotomy of body of os calcis for correction congenital deformity of foot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	3
Separation of tarsal coalition	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Release of medial soft tissue of hindfoot and excision of lateral wedge of os calcis and fusion of os calcis	Direct morphology	False	anomalie du développement	Inferred relationship	Some	3
Triple arthrodesis for correction of congenital deformity of foot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	4
Primary correction of clubfoot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Medial release of joints of foot for correction of congenital deformity of foot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Dilwyn Evans procedure for correction of clubfoot	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Gelman operation	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2
Intrauterine fetal defect correction	Direct morphology	False	anomalie du développement	Inferred relationship	Some	1
Reduction of congenital hip dislocation by traction	Direct morphology	False	anomalie du développement	Inferred relationship	Some	3
Juvenile osteochondrosis of left tarsus	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Juvenile osteochondrosis of bilateral tarsals (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Juvenile osteochondrosis of right tarsus (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Radialization correction for radial club hand	Direct morphology	False	anomalie du développement	Inferred relationship	Some	3
Correction of congenital deformity of forearm	Direct morphology	False	anomalie du développement	Inferred relationship	Some	2

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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
64781000077117	anomalie du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module