308490002: Pathological developmental process (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Process (qualifier value)\Pathological process\Pathological developmental process

\Special atomic mapping values\Special disorder atoms\Pathological process\Pathological developmental process

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

451847013 Pathological developmental process en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3858451000005115 patologisk udviklingsproces da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pathological developmental process	Is a	Pathological process	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectopia lentis et pupillae (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Ectopia lentis et pupillae (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Simple syndactyly of toes of right foot	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Simple syndactyly of toes of left foot (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Peripheral congenital arteriovenous aneurysm	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Acheiropodia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Acheiropodia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Acheiropodia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Acheiropodia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	4
Hydranencephaly (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Hydranencephaly with proliferative vasculopathy	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of carpal lunate	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Fragmented coronoid process (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	3
Juvenile osteochondrosis of right second metatarsal	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Sygdom i processus coronoideus medialis	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Complete epiphyseal arrest	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Partial epiphyseal arrest	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Arrest of bone development AND/OR growth	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Juvenile osteochondrosis of the foot (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	3
Juvenile osteochondrosis of left second metatarsal	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Trochlear notch incongruity (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Disorder of bone development (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Epiphyseal arrest	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Juvenile osteochondrosis of lower extremity	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of talus	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Juvenile osteochondrosis of second metatarsal	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Juvenile osteochondrosis of lower ulna	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of left tarsus	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of left tarsal navicular	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of bilateral tarsals (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	3
Juvenile osteochondrosis of tibial tubercle (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of head of metacarpals	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	5
Juvenile osteochondrosis of lower extremity, excluding foot	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of the secondary patellar center	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of right tarsal navicular (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of right tarsus (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of upper extremity	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of os tibiale	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of tibial tuberosity of bilateral knees (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Juvenile osteochondrosis of tarsal navicular	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Juvenile osteochondrosis of fifth metatarsal	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Juvenile osteochondrosis of primary patellar center	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Juvenile osteochondrosis of hand	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	3
Congenital onychoatrophy (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Trifalangeale tommelfingre med onykodystrofi	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
A rare syndromic nail anomaly disorder with characteristics of the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with longitudinal furrows on electronic microscopy.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Congenital onychauxis	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Nail dystrophy due to Darier's disease (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Venous malformation	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	4
Oculodento-osseous dysplasia - mild type	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Oculodento-osseous dysplasia - mild type	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Oculodento-osseous dysplasia - severe type	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Oculodento-osseous dysplasia - severe type	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Gorham's disease	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Congenital inguinal hernia (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare genetic non-syndromic limb malformation with characteristics of delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare primary bone dysplasia with characteristics of intrauterine growth retardation, pre and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. There is evidence this disease is caused by homozygous mutation in the MAGMAS (PAM16) gene on chromosome 16p13.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital atresia of coronary ostium	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Osteosclerosis - Stanescu type	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Bilateral congenital primary hydronephrosis (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
A very rare developmental defect with connective tissue involvement disorder that has characteristics of tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (such as hallux valgus, talipes equinovarus).	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A very rare developmental defect with connective tissue involvement disorder that has characteristics of tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (such as hallux valgus, talipes equinovarus).	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
A very rare developmental defect with connective tissue involvement disorder that has characteristics of tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (such as hallux valgus, talipes equinovarus).	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
A rare primary bone dysplasia disorder with characteristics of normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses and irregular distal femoral and proximal tibial metaphyses.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Spongy venous malformation	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Oculodento-osseous dysplasia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare genetic cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. There is evidence the disease is caused by homozygous or compound heterozygous mutations in the LAMC3 gene on chromosome 9q34.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. There is evidence the disease is caused by homozygous or compound heterozygous mutations in the LAMC3 gene on chromosome 9q34.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Congenital stenosis of ostium of coronary artery (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare genetic ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic pontocerebellar hypoplasia subtype with characteristics of severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. Caused by homozygous mutation in the CLP1 gene on chromosome 11q12.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic pontocerebellar hypoplasia subtype with characteristics of severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. Caused by homozygous mutation in the CLP1 gene on chromosome 11q12.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare central nervous system malformation with characteristics of a specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been reported.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of benign isolated calvarial thickening presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
451847013	Pathological developmental process	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
705033019	Pathological developmental process (qualifier value)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3858451000005115	patologisk udviklingsproces	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)