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363045008: Connective tissue hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3038367019 Inherited disorder of connective tissue en Synonym Active Case insensitive SNOMED CT core
482180014 Connective tissue hereditary disorder en Synonym Active Case insensitive SNOMED CT core
754824015 Connective tissue hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

149 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited disorder of connective tissue Is a Disorder of connective tissue true Inferred relationship Some
Inherited disorder of connective tissue Is a Hereditary disorder by system false Inferred relationship Some
Inherited disorder of connective tissue Finding site Connective tissue structure true Inferred relationship Some 1
Inherited disorder of connective tissue Finding site Body system structure false Inferred relationship Some
Inherited disorder of connective tissue Is a Hereditary disease false Inferred relationship Some
Inherited disorder of connective tissue Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Ehlers-Danlos syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex Is a False Inherited disorder of connective tissue Inferred relationship Some
Cutaneous asthenia in dogs AND/OR cats Is a False Inherited disorder of connective tissue Inferred relationship Some
Cleidocranial dysostosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Fleck corneal dystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Schnyder crystalline cornea dystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Mule foot deformity Is a False Inherited disorder of connective tissue Inferred relationship Some
Pachydermoperiostosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Fanconi's anaemia Is a False Inherited disorder of connective tissue Inferred relationship Some
Giacci familial neurogenic acroosteolysis Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrocephalosyndactyly type I Is a False Inherited disorder of connective tissue Inferred relationship Some
Klippel-Trenaunay-Weber syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Duane-radial ray syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Inherited disorder of connective tissue Inferred relationship Some
Polyostotic fibrous dysplasia of bone Is a False Inherited disorder of connective tissue Inferred relationship Some
Shwachman syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Tarsal-carpal coalition syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
3-M syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Is a False Inherited disorder of connective tissue Inferred relationship Some
Congenital stromal corneal dystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations Is a False Inherited disorder of connective tissue Inferred relationship Some
Surfactant dysfunction Is a False Inherited disorder of connective tissue Inferred relationship Some
Auriculo-condylar syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Acromicric dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Brachydactyly syndrome type B Is a False Inherited disorder of connective tissue Inferred relationship Some
Congenital dystrophia brevicollis Is a False Inherited disorder of connective tissue Inferred relationship Some
Branchiooculofacial syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation Is a False Inherited disorder of connective tissue Inferred relationship Some
Majeed syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a True Inherited disorder of connective tissue Inferred relationship Some
Baller-Gerold syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Pulmonary interstitial glycogenosis Is a True Inherited disorder of connective tissue Inferred relationship Some
Antley-Bixler syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Carpenter's syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Crouzon syndrome with acanthosis nigricans Is a False Inherited disorder of connective tissue Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a False Inherited disorder of connective tissue Inferred relationship Some
Marfan's syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Marden Walker syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Dermatosparaxis in cattle AND/OR sheep Is a False Inherited disorder of connective tissue Inferred relationship Some
Atelosteogenesis Is a False Inherited disorder of connective tissue Inferred relationship Some
Jackson-Weiss syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Macular corneal dystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Oto-onycho-peroneal syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial partial lipodystrophy Dunnigan type Is a True Inherited disorder of connective tissue Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect Is a False Inherited disorder of connective tissue Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial avascular necrosis of head of femur Is a False Inherited disorder of connective tissue Inferred relationship Some
Autosomal recessive distal osteolysis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Chondrodysplasia punctata Toriello type Is a False Inherited disorder of connective tissue Inferred relationship Some
MacDermot Winter syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Gnathodiaphyseal dysplasia Is a True Inherited disorder of connective tissue Inferred relationship Some
Spondylo-ocular syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial osteochondritis dissecans Is a False Inherited disorder of connective tissue Inferred relationship Some
Ulna metaphyseal dysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Microcephaly with cervical spine fusion anomaly Is a False Inherited disorder of connective tissue Inferred relationship Some
Reardon Hall Slaney syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Reinhardt Pfeiffer mesomelic dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Fibular aplasia and complex brachydactyly Is a False Inherited disorder of connective tissue Inferred relationship Some
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis Is a False Inherited disorder of connective tissue Inferred relationship Some
Brachyolmia type 1 Toledo type Is a False Inherited disorder of connective tissue Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Brachydactyly type A1 Is a False Inherited disorder of connective tissue Inferred relationship Some
Brachydactyly type A4 Is a False Inherited disorder of connective tissue Inferred relationship Some
Brachydactyly type A6 Is a False Inherited disorder of connective tissue Inferred relationship Some
Smith McCort dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Congenital bowing of long bone Is a False Inherited disorder of connective tissue Inferred relationship Some
Gollop Wolfgang complex Is a False Inherited disorder of connective tissue Inferred relationship Some
Gollop syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Haspeslagh Fryns Muelenaere syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Nathalie syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Heide syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Verloes Bourguignon syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondylocamptodactyly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Autosomal dominant spondylocostal dysostosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Hypoplastic tibia and postaxial polydactyly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Multiple osteochondroma Is a False Inherited disorder of connective tissue Inferred relationship Some
Multicentric osteolysis nodulosis arthropathy spectrum Is a False Inherited disorder of connective tissue Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a False Inherited disorder of connective tissue Inferred relationship Some
Autosomal dominant brachyolmia Is a False Inherited disorder of connective tissue Inferred relationship Some
Lissencephaly syndrome Norman Roberts type Is a False Inherited disorder of connective tissue Inferred relationship Some
Epidermolysis bullosa simplex due to plakophilin deficiency Is a False Inherited disorder of connective tissue Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia Is a False Inherited disorder of connective tissue Inferred relationship Some
Enlarged parietal foramina Is a False Inherited disorder of connective tissue Inferred relationship Some
Acromesomelic dysplasia Maroteaux type Is a False Inherited disorder of connective tissue Inferred relationship Some
Mammary digital nail syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepiphyseal dysplasia MacDermot type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepiphyseal dysplasia Cantu type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type Is a False Inherited disorder of connective tissue Inferred relationship Some
Von Voss-Cherstvoy syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Upington disease Is a True Inherited disorder of connective tissue Inferred relationship Some
Shprintzen-Goldberg syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia Missouri type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia PAPSS2 type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia Shohat type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type Is a False Inherited disorder of connective tissue Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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