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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

146 descendants. Search Descendants:

Expanded Value Set

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

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