255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital	Is a	Periods of life	false	Inferred relationship	Some
Congenital	Is a	Fetal and/or neonatal period	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked hereditary spastic paraplegia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.	Occurrence	False	Congenital	Inferred relationship	Some	5
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).	Occurrence	True	Congenital	Inferred relationship	Some	5
The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features.	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.	Occurrence	True	Congenital	Inferred relationship	Some	2
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.	Occurrence	False	Congenital	Inferred relationship	Some	4
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.	Occurrence	True	Congenital	Inferred relationship	Some	2
A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21.	Occurrence	True	Congenital	Inferred relationship	Some	3
Schwannomatosis	Occurrence	False	Congenital	Inferred relationship	Some	3
A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels.	Occurrence	False	Congenital	Inferred relationship	Some	4
A rare genetic development defect during embryogenesis malformation syndrome with the association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.	Occurrence	True	Congenital	Inferred relationship	Some	4
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.	Occurrence	True	Congenital	Inferred relationship	Some	6
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.	Occurrence	True	Congenital	Inferred relationship	Some	7
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.	Occurrence	True	Congenital	Inferred relationship	Some	5
Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.	Occurrence	True	Congenital	Inferred relationship	Some	3
Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.	Occurrence	True	Congenital	Inferred relationship	Some	4
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.	Occurrence	True	Congenital	Inferred relationship	Some	5
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.	Occurrence	True	Congenital	Inferred relationship	Some	4
Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.	Occurrence	False	Congenital	Inferred relationship	Some	3
RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.	Occurrence	True	Congenital	Inferred relationship	Some	3
A subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2.	Occurrence	True	Congenital	Inferred relationship	Some	3
A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly). Also associated are humeral immunodeficiency with inability to generate specific antibodies and low circulating B-cells, craniofacial dysmorphism that typically includes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip. There is evidence the disease is caused by compound heterozygous mutation in the RNU4ATAC gene on chromosome 2q14.	Occurrence	True	Congenital	Inferred relationship	Some	3
Complete aphalangia of upper limb	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopia cordis	Occurrence	True	Congenital	Inferred relationship	Some	1
Lumbosacral prespondylolisthesis	Occurrence	False	Congenital	Inferred relationship	Some	1
Lowe syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Lowe syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Wildervanck syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Wildervanck syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Wildervanck syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Wildervanck syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Ehlers-Danlos' syndrom, dominant type 4	Occurrence	False	Congenital	Inferred relationship	Some	1
Prader-Willi syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Monostotic fibrous dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Aicardi's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Floating gallbladder	Occurrence	True	Congenital	Inferred relationship	Some	1
Cor biloculare	Occurrence	True	Congenital	Inferred relationship	Some	1
Cor biloculare	Occurrence	True	Congenital	Inferred relationship	Some	2
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	True	Congenital	Inferred relationship	Some	3
Ehlers-Danlos' syndrom, type 1	Occurrence	False	Congenital	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinemic	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteitis fibrosa cystica	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital cleft of thymus	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofibromatosis type 2	Occurrence	False	Congenital	Inferred relationship	Some	1
Neurofibromatosis type 1	Occurrence	True	Congenital	Inferred relationship	Some	1
Combined valvular-subvalvular pulmonic stenosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormal fusion of arch of lumbar vertebra	Occurrence	True	Congenital	Inferred relationship	Some	1
Monophthalmos	Occurrence	True	Congenital	Inferred relationship	Some	1
Extracapsular adrenal tissue	Occurrence	True	Congenital	Inferred relationship	Some	1
hemicentrisk lændehvirvels corpus vertebrae	Occurrence	False	Congenital	Inferred relationship	Some	1
hemicentrisk centrum i brysthvirvels corpus vertebrae	Occurrence	False	Congenital	Inferred relationship	Some	1
Hologastroschisis	Occurrence	True	Congenital	Inferred relationship	Some	1
Single naris	Occurrence	True	Congenital	Inferred relationship	Some	1
Hallermann-Streiff syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Distichiasis-lymphedema syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Hereditary elliptocytosis due to alpha spectrin defect	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital syphilitic choroiditis	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992.	Occurrence	True	Congenital	Inferred relationship	Some	8
A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992.	Occurrence	True	Congenital	Inferred relationship	Some	7
Congenital volvulus of stomach	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital duodenal obstruction due to annular pancreas (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lymphangiectasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cutaneous lymphangiectasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lymphangiectasia with chylous reflux (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormality of atrium (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Arteriovenous malformation of uterus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of oesophagus with oesophagobronchial fistula	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of oesophagus with oesophagobronchial fistula	Occurrence	True	Congenital	Inferred relationship	Some	3
Atresia of oesophagus with oesophagobronchial fistula	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Gamma delta beta thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Agenesis of artery	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurenteric cyst (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, with characteristics of congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. Four types of FFDD are described. Types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. Types I and IV are infrequently associated with extra-cutaneous anomalies.	Occurrence	True	Congenital	Inferred relationship	Some	2
Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, with characteristics of congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. Four types of FFDD are described. Types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. Types I and IV are infrequently associated with extra-cutaneous anomalies.	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full penetrance.	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full penetrance.	Occurrence	True	Congenital	Inferred relationship	Some	2
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia with characteristics of congenital bitemporal scar-like depressions with additional facial dysmorphic features. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioural problems, and learning difficulties may be observed. Transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance.	Occurrence	True	Congenital	Inferred relationship	Some	2
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia with characteristics of congenital bitemporal scar-like depressions with additional facial dysmorphic features. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioural problems, and learning difficulties may be observed. Transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance.	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia with primary characteristics of congenital bitemporal scar-like depressions and a typical but variable facial dysmorphism. Caused by homozygous mutations in the TWIST2 gene, which encodes a bHLH transcription factor involved in dermal facial development in mammals. However, the majority of unrelated FFDD3 patients evaluated have had normal TWIST2 sequences, indicating the molecular genetic heterogeneity of the disorder. Many cases are sporadic. Inheritance is autosomal recessive for patients with TWIST2 mutations.	Occurrence	True	Congenital	Inferred relationship	Some	2
Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia with primary characteristics of congenital bitemporal scar-like depressions and a typical but variable facial dysmorphism. Caused by homozygous mutations in the TWIST2 gene, which encodes a bHLH transcription factor involved in dermal facial development in mammals. However, the majority of unrelated FFDD3 patients evaluated have had normal TWIST2 sequences, indicating the molecular genetic heterogeneity of the disorder. Many cases are sporadic. Inheritance is autosomal recessive for patients with TWIST2 mutations.	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia with characteristics of congenital isolated preauricular and/or cheek blister scar-like lesions. Affected FFDD4 patients typically do not present with extra-cutaneous manifestations, although in a small number of cases, a hair collar sign (circumscription of the cutaneous lesion with terminal hairs), polyps on the buccal mucosa with a similar distribution pattern, and developmental delay have been reported. An autosomal recessive trait.	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia with characteristics of congenital isolated preauricular and/or cheek blister scar-like lesions. Affected FFDD4 patients typically do not present with extra-cutaneous manifestations, although in a small number of cases, a hair collar sign (circumscription of the cutaneous lesion with terminal hairs), polyps on the buccal mucosa with a similar distribution pattern, and developmental delay have been reported. An autosomal recessive trait.	Occurrence	True	Congenital	Inferred relationship	Some	2
A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas.	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of anterior portion of neck (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem.	Occurrence	True	Congenital	Inferred relationship	Some	5
A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.	Occurrence	False	Congenital	Inferred relationship	Some	3
A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.	Occurrence	False	Congenital	Inferred relationship	Some	1
A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.	Occurrence	False	Congenital	Inferred relationship	Some	2
Complete achromatopsia	Occurrence	True	Congenital	Inferred relationship	Some	1
Blue cone monochromatism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Retinal racemose hemangioma	Occurrence	True	Congenital	Inferred relationship	Some	1
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Occurrence	True	Congenital	Inferred relationship	Some	4
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Occurrence	False	Congenital	Inferred relationship	Some	3
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Occurrence	True	Congenital	Inferred relationship	Some	2
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Occurrence	True	Congenital	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
380598010	Congenital	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
380599019	Congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
646433016	Congenital (qualifier value)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)