FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-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
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

149 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 Some
Connective tissue hereditary disorder Is a Disorder of connective tissue (disorder) true Inferred relationship Some
Connective tissue hereditary disorder Is a Hereditary disorder by system false Inferred relationship Some
Connective tissue hereditary disorder Finding site Connective tissue structure true Inferred relationship Some 1
Connective tissue hereditary disorder Finding site Body system structure false Inferred relationship Some
Connective tissue hereditary disorder Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant hypophosphatemic rickets Is a False Connective tissue hereditary disorder Inferred relationship Some
Autosomal recessive hypophosphatemic bone disease Is a False Connective tissue hereditary disorder Inferred relationship Some
A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Is a False Connective tissue hereditary disorder Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets Is a False Connective tissue hereditary disorder Inferred relationship Some
Morquio syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Fanconi syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Cherubism Is a False Connective tissue hereditary disorder Inferred relationship Some
diabète insipide néphrogénique héréditaire Is a False Connective tissue hereditary disorder Inferred relationship Some
Infantile nephropathic cystinosis Is a True Connective tissue hereditary disorder Inferred relationship Some
Metabolic disease of collagen Is a False Connective tissue hereditary disorder Inferred relationship Some
Hereditary edema of legs Is a False Connective tissue hereditary disorder Inferred relationship Some
Hereditary tubulointerstitial disorder Is a True Connective tissue hereditary disorder Inferred relationship Some
Farber's lipogranulomatosis Is a False Connective tissue hereditary disorder Inferred relationship Some
Neurofibromatosis type 1 Is a False Connective tissue hereditary disorder Inferred relationship Some
Familial Mediterranean fever Is a False Connective tissue hereditary disorder Inferred relationship Some
Gouty tophus of tendon Is a False Connective tissue hereditary disorder Inferred relationship Some
Familial interstitial nephritis Is a True Connective tissue hereditary disorder Inferred relationship Some
Hypermobility syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Some
Craniodiaphyseal dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Some
Mandibuloacral dysostosis Is a True Connective tissue hereditary disorder Inferred relationship Some
Marfan's syndrome affecting skin Is a False Connective tissue hereditary disorder Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a False Connective tissue hereditary disorder Inferred relationship Some
Autosomal recessive hypophosphatemic bone disease Is a False Connective tissue hereditary disorder Inferred relationship Some
Cutis laxa, autosomal dominant Is a False Connective tissue hereditary disorder Inferred relationship Some
Geroderma osteodysplastica Is a False Connective tissue hereditary disorder Inferred relationship Some
Dysostosis multiplex group Is a False Connective tissue hereditary disorder Inferred relationship Some
Lattice corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets Is a False Connective tissue hereditary disorder Inferred relationship Some
Pyle metaphyseal dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Some
Morquio syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Is a False Connective tissue hereditary disorder Inferred relationship Some
Cherubism Is a False Connective tissue hereditary disorder Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Menkes kinky-hair syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Cutis laxa, autosomal recessive Is a False Connective tissue hereditary disorder Inferred relationship Some
Franceschetti-Klein syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Acrodysostosis Is a False Connective tissue hereditary disorder Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
Benign autosomal dominant osteopetrosis Is a False Connective tissue hereditary disorder Inferred relationship Some
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Is a False Connective tissue hereditary disorder Inferred relationship Some
Multiple congenital exostosis Is a True Connective tissue hereditary disorder Inferred relationship Some
Spondyloenchondromatosis (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
Cutaneous asthenia in dogs AND/OR cats Is a False Connective tissue hereditary disorder Inferred relationship Some
Cleidocranial dysostosis Is a False Connective tissue hereditary disorder Inferred relationship Some
Fleck corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Some
Schnyder crystalline cornea dystrophy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Some
Bovine hereditary syndactyly Is a False Connective tissue hereditary disorder Inferred relationship Some
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme fruste with prominent pachydermia and minimal-to-absent skeletal changes. Is a False Connective tissue hereditary disorder Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Fanconi's anemia Is a False Connective tissue hereditary disorder Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
Acrocephalosyndactyly type I Is a False Connective tissue hereditary disorder Inferred relationship Some
angiodysplasie ostéodystrophique Is a False Connective tissue hereditary disorder Inferred relationship Some
Duane-radial ray syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Connective tissue hereditary disorder Inferred relationship Some
Polyostotic fibrous dysplasia of bone Is a False Connective tissue hereditary disorder Inferred relationship Some
Shwachman syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Tarsal-carpal coalition syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
3-M syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
Congenital stromal corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
Surfactant dysfunction Is a False Connective tissue hereditary disorder Inferred relationship Some
Auriculo-condylar syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Acromicric dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Some
Brachydactyly syndrome type B (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
brevicollis congénital Is a False Connective tissue hereditary disorder Inferred relationship Some
Branchiooculofacial syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a False Connective tissue hereditary disorder Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation Is a False Connective tissue hereditary disorder Inferred relationship Some
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. Is a False Connective tissue hereditary disorder Inferred relationship Some
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Is a True Connective tissue hereditary disorder Inferred relationship Some
Baller-Gerold syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Pulmonary interstitial glycogenosis Is a True Connective tissue hereditary disorder Inferred relationship Some
Antley-Bixler syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Carpenter's syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Is a False Connective tissue hereditary disorder Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a False Connective tissue hereditary disorder Inferred relationship Some
Marfan's syndrome Is a True Connective tissue hereditary disorder Inferred relationship Some
Marden Walker syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Dermatosparaxis in cattle AND/OR sheep Is a False Connective tissue hereditary disorder Inferred relationship Some
Atelosteogenesis (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
Jackson-Weiss syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
Macular corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Some
Oto-onycho-peroneal syndrome Is a False Connective tissue hereditary disorder Inferred relationship Some
A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. Is a True Connective tissue hereditary disorder Inferred relationship Some
Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. Is a False Connective tissue hereditary disorder Inferred relationship Some
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a False Connective tissue hereditary disorder Inferred relationship Some
Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Is a False Connective tissue hereditary disorder Inferred relationship Some
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. Is a False Connective tissue hereditary disorder Inferred relationship Some
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Is a False Connective tissue hereditary disorder Inferred relationship Some
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Is a False Connective tissue hereditary disorder Inferred relationship Some
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. Is a True Connective tissue hereditary disorder Inferred relationship Some
Spondyloocular syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Some
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. Is a False Connective tissue hereditary disorder Inferred relationship Some

Page 1 of 5 Next End

This concept is not in any reference sets

Back to Start