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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
Familial osteochondritis dissecans Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ulna metaphyseal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachyolmia type 1 Toledo type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type A1 Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type A4 Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type A6 (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Smith McCort dysplasia (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bowing of long bone (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frontofacionasal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nathalie syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocamptodactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple osteochondroma Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multicentric osteolysis nodulosis arthropathy spectrum Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly syndrome Norman Roberts type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mammary digital nail syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Cantu type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
DK phocomelia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Missouri type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Shohat type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterised clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia due to matrilin-3 variants and characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterised by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal recessive chondrodysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Larsen-like syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A form of junctional epidermolysis bullosa characterised by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Kantaputra type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleidorhizomelic syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mandibulofacial dysostosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Trigonocephaly with broad thumb syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bartter syndrome type 4a (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acropectoral syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal mandibular syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrocraniofacial dysostosis (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acropectorovertebral dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Doughnut lesion of calvaria and bone fragility syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Campomelia Cumming type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cardiocranial syndrome Pfeiffer type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Catania type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Palagonia type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Rodriguez type (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia Azouz type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly and arterial hypertension syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Coxopodopatellar syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cranioosteoarthropathy (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial conodysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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