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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
Spondyloepiphyseal dysplasia Kimberley type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepiphyseal dysplasia Maroteaux type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia aggrecan type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia matrilin-3 type Is a False Inherited disorder of connective tissue Inferred relationship Some
Pyknoachondrogenesis Is a False Inherited disorder of connective tissue Inferred relationship Some
Posterior amorphous corneal dystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Pelvis shoulder dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Pelviscapular dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type Is a False Inherited disorder of connective tissue Inferred relationship Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Lethal recessive chondrodysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Lethal Larsen-like syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Late-onset junctional epidermolysis bullosa Is a False Inherited disorder of connective tissue Inferred relationship Some
Mesomelic dysplasia Kantaputra type Is a False Inherited disorder of connective tissue Inferred relationship Some
Cleidorhizomelic syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Stickler syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
X-linked mandibulofacial dysostosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type Is a False Inherited disorder of connective tissue Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
X-linked dominant chondrodysplasia Chassaing Lacombe type Is a False Inherited disorder of connective tissue Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Temtamy syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Trigonocephaly with broad thumb syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Bartter syndrome type 4a Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrofrontofacionasal dysostosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Acropectoral syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrorenal mandibular syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrorenoocular syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrocapitofemoral dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrocraniofacial dysostosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Acropectorovertebral dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Campomelia Cumming type Is a False Inherited disorder of connective tissue Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 Is a False Inherited disorder of connective tissue Inferred relationship Some
Cardiocranial syndrome Pfeiffer type Is a False Inherited disorder of connective tissue Inferred relationship Some
Cardiospondylocarpofacial syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrofacial dysostosis Catania type Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrofacial dysostosis Palagonia type Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrofacial dysostosis Rodriguez type Is a False Inherited disorder of connective tissue Inferred relationship Some
Aniridia and absent patella syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Bone dysplasia Azouz type Is a False Inherited disorder of connective tissue Inferred relationship Some
Brachydactyly and arterial hypertension syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Cerebro-facio-thoracic dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Coxopodopatellar syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Cranio-osteoarthropathy Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniofacial conodysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniofacial dyssynostosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniosynostosis Boston type Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniosynostosis Philadelphia type Is a False Inherited disorder of connective tissue Inferred relationship Some
Czech dysplasia metatarsal type Is a False Inherited disorder of connective tissue Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Filippi syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Fountain syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Frank-Ter Haar syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Holt-Oram syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Cloverleaf skull with multiple congenital anomalies syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Fine Lubinsky syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Hall Riggs syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Heart defect and limb shortening syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Heart-hand syndrome Slovenian type Is a False Inherited disorder of connective tissue Inferred relationship Some
Oliver syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Diaphanospondylodysostosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Fibular aplasia and ectrodactyly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a False Inherited disorder of connective tissue Inferred relationship Some
Hunter McAlpine craniosynostosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Hypomandibular faciocranial dysostosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Juberg Hayward syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Qazi Markouizos syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Robinow-like syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Odontochondrodysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Grange syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Blindness, scoliosis, arachnodactyly syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Lowry MacLean syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
DOORS syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Karsch Neugebauer syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Oto-palato-digital syndrome, type II 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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