FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

363045008: Connective tissue hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482180014 Connective tissue hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754824015 Connective tissue hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3038367019 Inherited disorder of connective tissue en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
482180014 Connective tissue hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
482180014 Connective tissue hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754824015 Connective tissue hereditary disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
754824015 Connective tissue hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3038367019 Inherited disorder of connective tissue en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3038367019 Inherited disorder of connective tissue en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5229101000241113 maladie héréditaire du tissu conjonctif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5229101000241113 maladie héréditaire du tissu conjonctif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

148 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Connective tissue hereditary disorder Is a Hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue hereditary disorder Is a Disorder of connective tissue true Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue hereditary disorder Is a Hereditary disorder by system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue hereditary disorder Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Connective tissue hereditary disorder Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue hereditary disorder Is a Hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Craniofacial conodysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dyssynostosis syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Philadelphia type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Czech dysplasia metatarsal type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia with disorder of sex development syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Filippi syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frank-Ter Haar syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Holt-Oram syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fine Lubinsky syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hall Riggs syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome Slovenian type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oliver syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short fifth metacarpal insulin resistance syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dacryocystitis and osteopoikilosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Diaphanospondylodysostosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hunter McAlpine craniosynostosis syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypomandibular faciocranial dysostosis is a cranial malformation characterised by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Puerto Rican infant hypotonia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Robinow-like syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Grange syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Blindness, scoliosis, arachnodactyly syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lowry MacLean syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Scholte syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type I Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ballard syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Catel Manzke syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with intellectual disability syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fuhrmann syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteocraniostenosis (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyose-Hypotrichose-Syndrom Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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 Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dyschondrosteose - Nephritis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dystrophic epidermolysis bullosa nails only (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, developmental defect during embryogenesis disorder characterised by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Laryngo-onycho-cutaneous syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Parastremmatic dwarfism (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Basal epidermolysis bullosa simplex (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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 Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Transient bullous dermolysis of newborn (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Thoracolaryngopelvic dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Patterson Stevenson Fontaine syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy Kobberling type Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

Start Previous Page 3 of 5 Next End

This concept is not in any reference sets

Back to Start