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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
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 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

142 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Connective tissue hereditary disorder est un(e) (attribut) affection du tissu conjonctif true Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) Hereditary disorder by system false Inferred relationship Some
Connective tissue hereditary disorder localisation d'une constatation (attribut) Connective tissue structure true Inferred relationship Some 1
Connective tissue hereditary disorder localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) maladie héréditaire false Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) maladie héréditaire true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Oculootoradial syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ballard syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Catel Manzke syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome de Furhmann est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Osteocraniostenosis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Pacman dysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Dyschondrosteosis and nephritis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Dystrophic epidermolysis bullosa nails only (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Thickened earlobe with conductive deafness syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Familial caudal dysgenesis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Laryngo-onycho-cutaneous syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Parastremmatic dwarfism (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Basal epidermolysis bullosa simplex (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome de dysplasie osseuse terminale-défauts de pigmentation est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Talo-patello-scaphoid osteolysis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Recessive dystrophic epidermolysis bullosa (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Transient bullous dermolysis of newborn (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Thoracolaryngopelvic dysplasia est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Grant syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Schimke immuno-osseous dysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
lipodystrophie partielle familiale type Köbberling est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Infantile malignant osteopetrosis est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
8q13 microdeletion syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Keutel syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Junctional epidermolysis bullosa non-Herlitz type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hypertelorism Teebi type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
scaphocéphalie familiale type McGillivray est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Autosomal dominant osteopetrosis type 2 (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cryptomicrotia brachydactyly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniomicromelic syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniolenticulosutural dysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
raccourcissement congénital du ligament costo-coracoïde est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Omodysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Familial Scheuermann disease (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Genochondromatosis type 2 (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Genetic lipodystrophy (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Familial chondromalacia of patella (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Coxoauricular syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Brachydactyly and distal symphalangism syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome de Banki est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
dystrophie thoracique asphyxiante est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Long thumb brachydactyly syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Van den Bosch syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Summitt syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
epidermolyse bulleuse dystrophique dominante acrale est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some

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