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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
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)
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 True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Junctional epidermolysis bullosa non-Herlitz type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial scaphocephaly syndrome McGillivray type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cryptomicrotia brachydactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modelling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniolenticulosutural dysplasia (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short costocoracoid ligament (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial Scheuermann disease (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Genochondromatosis type 2 (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Genetic lipodystrophy (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Saldino Noonan type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial chondromalacia of patella (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Coxoauricular syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia lethal Holmgren type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis fibular aplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly and distal symphalangism syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of ulna and split foot syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Absent tibia, polydactyly, arachnoid cyst syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Banki syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Jeune thoracic dystrophy (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long thumb brachydactyly syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Goodman-Syndrom Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Summitt Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
SCARF syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Goldenhar syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant tubulointerstitial disease Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebrofacioarticular syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
White forelock with malformations syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Keipert syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloperipheral dysplasia (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, the first phenotype; patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities. The second phenotype; short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly. The third phenotype; patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia anauxetic type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterised by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A very rare syndrome characterised by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Otopalatodigital syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Arthrochalasia Ehlers-Danlos syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome cardiac valvular type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome progeroid type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos type vasculaire-like Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brittle cornea syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal systemic lupus erythematosus (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodegenerative syndrome with lipodystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex due to BP230 deficiency Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial angiolipomatosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Leydig cell agenesis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Karyomegalic interstitial nephritis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Extensor tendons of finger anomalies (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inherited cutis laxa Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidaemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aneurysm osteoarthritis syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary vitreoretinopathy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasia epiphysealis hemimelica (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metachondromatosis (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Meretoja Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gelatinous droplike corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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