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255399007: Congenital (qualifier value)

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
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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 characterized by 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 form 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, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Occurrence True Congenital Inferred relationship Some 3
schwannomatose Occurrence False Congenital Inferred relationship Some 3
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis. Occurrence False Congenital Inferred relationship Some 4
Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by 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 form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Occurrence True Congenital Inferred relationship Some 3
A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features. 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 syndrome, 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 rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Occurrence True Congenital Inferred relationship Some 2
Familial x-linked hypophosphatemic vitamin D refractory rickets Occurrence True Congenital Inferred relationship Some 3
syndrome d'Ehlers-Danlos 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
Hemicentric lumbar centrum Occurrence False Congenital Inferred relationship Some 1
Hemicentric thoracic centrum 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 characterized by 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 characterized by 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 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 characterized by 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, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described. FFDD 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. FFDD 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, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described. FFDD 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. FFDD 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 characterized by juvenile-onset of 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 postmortem. Occurrence True Congenital Inferred relationship Some 5
A group of rare, genetic, neurodegenerative diseases characterized by an 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 characterized by an 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 characterized by an 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 (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 (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 (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 (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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