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363045008: Connective tissue hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482180014 Connective tissue hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
754824015 Connective tissue hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3038367019 Inherited disorder of connective tissue en Synonym Active Entire term case insensitive SNOMED CT core 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
Connective tissue hereditary disorder Is a Disorder of connective tissue true Inferred relationship Existential restriction modifier
Connective tissue hereditary disorder Is a Hereditary disorder by system false Inferred relationship Existential restriction modifier
Connective tissue hereditary disorder Finding site Connective tissue structure true Inferred relationship Existential restriction modifier 1
Connective tissue hereditary disorder Finding site Body system structure false Inferred relationship Existential restriction modifier
Connective tissue hereditary disorder Is a Hereditary disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Craniofacial conodysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial dyssynostosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis, anal anomaly, porokeratosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis Boston type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis Philadelphia type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Czech dysplasia metatarsal type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia with disorder of sex development syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Filippi syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Frank-Ter Haar syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Holt-Oram syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cloverleaf skull with multiple congenital anomalies syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Fine Lubinsky syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hall Riggs syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Heart defect and limb shortening syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Heart-hand syndrome Slovenian type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Postaxial polydactyly and intellectual disability syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Short fifth metacarpal insulin resistance syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Short tarsus with absence of lower eyelashes syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Dacryocystitis and osteopoikilosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Diaphanospondylodysostosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Aplasia of fibula and ectrodactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hunter McAlpine craniosynostosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hypomandibular faciocranial dysostosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Juberg Hayward syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Puerto Rican infant hypotonia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Robinow-like syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Blindness, scoliosis, arachnodactyly syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Lipodystrophy, intellectual disability, deafness syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Lowry MacLean syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hypertelorism with microtia and facial clefting syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Karsch Neugebauer syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Oto-palato-digital syndrome, type II Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Oto-palato-digital syndrome, type I Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Oculootoradial syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ballard syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Catel Manzke syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Skeletal dysplasia with intellectual disability syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Fuhrmann syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Osteocraniostenosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Pacman dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Agnathia, holoprosencephaly, situs inversus syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Dyschondrosteosis and nephritis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Dystrophic epidermolysis bullosa nails only Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Thickened earlobe with conductive deafness syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial caudal dysgenesis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Laryngo-onycho-cutaneous syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Parastremmatic dwarfism Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Basal epidermolysis bullosa simplex Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Microbrachycephaly, ptosis, cleft lip syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Terminal osseous dysplasia and pigmentary defect syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Talo-patello-scaphoid osteolysis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Recessive dystrophic epidermolysis bullosa Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Transient bullous dermolysis of newborn Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Thoracolaryngopelvic dysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Grant syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Schimke immuno-osseous dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Patterson Stevenson Fontaine syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial partial lipodystrophy Kobberling type Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Infantile malignant osteopetrosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Microspherophakia with metaphyseal dysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
8q13 microdeletion syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier

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