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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
Autosomal dominant hypophosphatemic rickets Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic bone disease Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nail-patella syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glucoaminophosphaturia syndrome with rickets Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Morquio syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cherubism Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
diabète insipide néphrogénique héréditaire Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile nephropathic cystinosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic disease of collagen Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary edema of legs Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary tubulointerstitial disorder Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Farber's lipogranulomatosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 1 (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial Mediterranean fever Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gouty tophus of tendon Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial interstitial nephritis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypermobility syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniodiaphyseal dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mandibuloacral dysostosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Marfan's syndrome affecting skin Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypophosphatemic bone disease Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic bone disease Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, autosomal dominant Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Geroderma osteodysplastica Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis multiplex group Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lattice corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glucoaminophosphaturia syndrome with rickets Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pyle metaphyseal dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Morquio syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Freeman-Sheldon syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cherubism Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Menkes kinky-hair syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, autosomal recessive (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Franceschetti-Klein syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrodysostosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type V (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Benign autosomal dominant osteopetrosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital exostosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloenchondromatosis (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cutaneous asthenia in dogs AND/OR cats Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleidocranial dysostosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fleck corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Schnyder crystalline cornea dystrophy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bovine hereditary syndactyly Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pachydermoperiostosis syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Radial aplasia-thrombocytopenia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi's anemia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Giacci familial neurogenic acroosteolysis (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type I Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
angiodysplasie ostéodystrophique Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Duane-radial ray syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Polyostotic fibrous dysplasia of bone Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Shwachman syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Tarsal-carpal coalition syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
3-M syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stromal corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Surfactant dysfunction Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Auriculo-condylar syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acromicric dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dystrophia brevicollis (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Branchiooculofacial syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia tarda Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia with immune dysregulation (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Baller-Gerold syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary interstitial glycogenosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Carpenter's syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Marfan's syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Marden Walker syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dermatosparaxis in cattle AND/OR sheep Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Atelosteogenesis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Jackson-Weiss syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Macular corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oto-onycho-peroneal syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy type 2 (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mirror hands and feet co-occurrent with nasal defect Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Familial avascular necrosis of head of femur (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterised 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 Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Gnathodiaphyseal dysplasia Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondylo-ocular syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteochondritis dissecans Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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