FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

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
Oto-palato-digital syndrome, type II Is a False Inherited disorder of connective tissue Inferred relationship Some
Oto-palato-digital syndrome, type I Is a False Inherited disorder of connective tissue Inferred relationship Some
IVIC syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Ballard syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Catel Manzke syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Guttmacher syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Fuhrmann syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Osteocraniostenosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Pacman dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Distal limb deficiency with micrognathia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Dystrophic epidermolysis bullosa nails only Is a False Inherited disorder of connective tissue Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial caudal dysgenesis Is a False Inherited disorder of connective tissue Inferred relationship Some
LOC syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Parastremmatic dwarfism Is a False Inherited disorder of connective tissue Inferred relationship Some
Basal epidermolysis bullosa simplex Is a False Inherited disorder of connective tissue Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
RIN2 syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a False Inherited disorder of connective tissue Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Talo-patello-scaphoid osteolysis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Recessive dystrophic epidermolysis bullosa Is a False Inherited disorder of connective tissue Inferred relationship Some
Transient bullous dermolysis of newborn Is a False Inherited disorder of connective tissue Inferred relationship Some
Thoracolaryngopelvic dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Grant syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Schimke immuno-osseous dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
RHYNS syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Patterson Stevenson Fontaine syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Richieri Costa Pereira syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial partial lipodystrophy Kobberling type Is a True Inherited disorder of connective tissue Inferred relationship Some
Infantile malignant osteopetrosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Is a True Inherited disorder of connective tissue Inferred relationship Some
8q13 microdeletion syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Keutel syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Junctional epidermolysis bullosa non-Herlitz type Is a False Inherited disorder of connective tissue Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Hypertelorism Teebi type Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial scaphocephaly syndrome McGillivray type Is a False Inherited disorder of connective tissue Inferred relationship Some
Autosomal dominant osteopetrosis type 2 Is a False Inherited disorder of connective tissue Inferred relationship Some
Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniomicromelic syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniolenticulosutural dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Congenital short costocoracoid ligament Is a True Inherited disorder of connective tissue Inferred relationship Some
Omodysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial Scheuermann disease Is a False Inherited disorder of connective tissue Inferred relationship Some
Genochondromatosis type 2 Is a True Inherited disorder of connective tissue Inferred relationship Some
Genetic lipodystrophy Is a False Inherited disorder of connective tissue Inferred relationship Some
Short rib polydactyly syndrome Saldino Noonan type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial chondromalacia of patella Is a True Inherited disorder of connective tissue Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Coxoauricular syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Bone dysplasia lethal Holmgren type Is a False Inherited disorder of connective tissue Inferred relationship Some
Craniosynostosis fibular aplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Czeizel Losonci syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Sillence syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
OSLAM syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Banki syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Jeune thoracic dystrophy Is a False Inherited disorder of connective tissue Inferred relationship Some
Exostosis, anetoderma, brachydactyly type E syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Long thumb brachydactyly syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrocephalopolysyndactyly type II Is a False Inherited disorder of connective tissue Inferred relationship Some
Mononen Karnes Senac syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Van den Bosch syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrocephalopolysyndactyly type IV Is a False Inherited disorder of connective tissue Inferred relationship Some
Summitt syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some

Start Previous Page 4 of 5 End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start