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363039000: Congenital connective tissue disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482174018 Congenital connective tissue disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754818014 Congenital connective tissue disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
146991000077112 affection congénitale du tissu conjonctif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

198 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital connective tissue disorder Is a Disorder of connective tissue (disorder) true Inferred relationship Some
Congenital connective tissue disorder Finding site Connective tissue structure false Inferred relationship Some
Congenital connective tissue disorder Finding site Structure of musculoskeletal system (body structure) false Inferred relationship Some
Congenital connective tissue disorder Finding site Connective tissue false Inferred relationship Some
Congenital connective tissue disorder Is a Congenital disease true Inferred relationship Some
Congenital connective tissue disorder Occurrence Congenital false Inferred relationship Some
Congenital connective tissue disorder Occurrence Congenital true Inferred relationship Some 1
Congenital connective tissue disorder Finding site Connective tissue structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. Is a False Congenital connective tissue disorder Inferred relationship Some
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Is a False Congenital connective tissue disorder Inferred relationship Some
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described. Is a False Congenital connective tissue disorder Inferred relationship Some
Ichthyose-Hypotrichose-Syndrom Is a False Congenital connective tissue disorder Inferred relationship Some
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. Is a False Congenital connective tissue disorder Inferred relationship Some
A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period. Is a False Congenital connective tissue disorder Inferred relationship Some
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Is a False Congenital connective tissue disorder Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. Is a False Congenital connective tissue disorder Inferred relationship Some
A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989. Is a True Congenital connective tissue disorder Inferred relationship Some
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital trigger finger of right hand Is a False Congenital connective tissue disorder Inferred relationship Some
Congenital trigger finger of left hand (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. Is a False Congenital connective tissue disorder Inferred relationship Some
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a senile facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. Is a True Congenital connective tissue disorder Inferred relationship Some
A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). Is a True Congenital connective tissue disorder Inferred relationship Some
Hypermobile Ehlers-Danlos syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
A rare developmental defect with connective tissue involvement disorder characterized by 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 (i.e. hallux valgus, talipes equinovarus). Is a True Congenital connective tissue disorder Inferred relationship Some
Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the mid phalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980. Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital hiatus hernia Is a False Congenital connective tissue disorder Inferred relationship Some
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. Is a True Congenital connective tissue disorder Inferred relationship Some
A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. Is a True Congenital connective tissue disorder Inferred relationship Some
Mandibuloacral dysostosis Is a True Congenital connective tissue disorder Inferred relationship Some
Hypoplasia of mitral valve annulus (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Aortic valve ring hypoplasia Is a False Congenital connective tissue disorder Inferred relationship Some
Tricuspid annulus hypoplasia (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Pulmonary valve ring hypoplasia Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital deformity of mitral valve annulus (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Allantoic cyst Is a True Congenital connective tissue disorder Inferred relationship Some
Radicular cyst Is a False Congenital connective tissue disorder Inferred relationship Some
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Dilatation of tricuspid annulus Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital malformation of vitreous humour Is a True Congenital connective tissue disorder Inferred relationship Some
Ehlers-Danlos syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Williams syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital Fanconi syndrome Is a True Congenital connective tissue disorder Inferred relationship Some
Developmental anomaly of bilateral pleurae (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital hypoplasia of annulus fibrosus of aorta (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Late congenital syphilitic osteochondropathy Is a True Congenital connective tissue disorder Inferred relationship Some
A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss. Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital trigger finger Is a True Congenital connective tissue disorder Inferred relationship Some
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. Is a True Congenital connective tissue disorder Inferred relationship Some
Familial articular hypermobility syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some

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