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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

148 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
8q13 microdeletion syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Keutel syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Junctional epidermolysis bullosa non-Herlitz type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Hypertelorism Teebi type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial scaphocephaly syndrome McGillivray type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant osteopetrosis type 2 (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cryptomicrotia brachydactyly syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Craniomicromelic syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Craniolenticulosutural dysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Congenital short costocoracoid ligament (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Omodysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial Scheuermann disease (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Genochondromatosis type 2 (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Genetic lipodystrophy (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial chondromalacia of patella (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Coxoauricular syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Brachydactyly and distal symphalangism syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Banki syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Jeune thoracic dystrophy (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Long thumb brachydactyly syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Van den Bosch syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrocephalopolysyndactyly type IV Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Summitt syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acral dystrophic epidermolysis bullosa (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
SCARF syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Vitamin D-dependent rickets Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Goldenhar syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant tubulointerstitial disease Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cerebrofacioarticular syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Velofacioskeletal syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
White forelock with malformations syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Keipert syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloperipheral dysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia Handigodu type Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cono-spondylar dysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Otopalatodigital syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome classic type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Arthrochalasia Ehlers-Danlos syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome progeroid type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Brittle cornea syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal systemic lupus erythematosus (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Severe neurodegenerative syndrome with lipodystrophy Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial angiolipomatosis Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Classical-like Ehlers-Danlos syndrome type 1 Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Leydig cell agenesis Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Karyomegalic interstitial nephritis (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Extensor tendons of finger anomalies (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Inherited cutis laxa (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Hereditary vitreoretinopathy Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Dysplasia epiphysealis hemimelica (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Metachondromatosis Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Meretoja syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Gelatinous droplike corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Carpotarsal osteochondromatosis (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some

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