363039000: Congenital connective tissue disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder

\Disorder of connective tissue (disorder)\Congenital connective tissue disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

482174018 Congenital connective tissue disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

754818014 Congenital connective tissue disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2321721000005117 Kongenit bindevævssygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital connective tissue disorder	Is a	Disorder of connective tissue (disorder)	true	Inferred relationship	Some
Congenital connective tissue disorder	Finding site	Connective tissue structure	false	Inferred relationship	Some
Congenital connective tissue disorder	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Congenital connective tissue disorder	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Congenital connective tissue disorder	Is a	Congenital disease	true	Inferred relationship	Some
Congenital connective tissue disorder	Occurrence	Congenital	false	Inferred relationship	Some
Congenital connective tissue disorder	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital connective tissue disorder	Finding site	Connective tissue structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital epicardial cyst (disorder)	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Congenital cyst of canal of Nuck	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital anomaly of cartilage	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Extrapulmonary subpleural pulmonary sequestration	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital aplasia of round ligament	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Kongenit tommel-springfinger	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Lateral accessory root canals	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Partially impacted tooth in bone	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital chylothorax	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital diffuse lipomatosis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Sammenvoksede tvillinger, der forårsager mekanisk misforhold	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Pleuropericardial cyst	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Kongenit postural rygskævhed	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Infantile myofibromatosis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Inherited cutis laxa	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Congenital bacterial pneumonia	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Gouty tophus of tendon	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital total lipodystrophy (disorder)	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Congenital anomaly of peritoneum	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Glucoaminophosphaturi-syndrom med rakit	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Kongenit tumor hos foster, der forårsager mekanisk misforhold	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital syphilitic periostitis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Mesenteric cyst	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Craniorachischisis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital coxa valga	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Morquio syndrome	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital shortening of tendon	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Congenital anomaly of pleural folds	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Congenital absence of muscle AND/OR tendon	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Universal mesentery (disorder)	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Leydig cell agenesis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital adhesions of omentum	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital syphilitic osteochondritis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Epidermolysis bullosa	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital rectovaginal constriction of Jersey cattle	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Infantile nephropathic cystinosis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Kongenit syfilitisk epifysit	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Omental cyst	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital contracted pelvis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital anomaly of broad ligament	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital coxa vara	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Farber's lipogranulomatosis	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital anomaly of skeletal bone	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Bertolotti's syndrome	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital mesocolic hernia	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Incomplete ossification of tympanic anulus	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital bronchomalacia	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital macular corneal dystrophy	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Anomali, lungehinder	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Schistosomus reflexus	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Kutan asteni hos hunde OG/ELLER katte	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Kongenit/hereditær cutis laxa	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Kongenit total lipoatrofi	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital adhesions of peritoneum	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital vaginal enterocele	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Fetal disproportion due to fetal myelomeningocele	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Defect of vertebral segmentation	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital spondylolysis of lumbosacral region	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital meningocele	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital absence of tendon	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Cutis laxa secondary to inherited disorder of connective tissue (disorder)	Associated with	False	Congenital connective tissue disorder	Inferred relationship	Some
Hypertelorism	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Jackson's membrane	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Klippel-Trénaunay-Webers syndrom	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Fanconi's anemia	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance.	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital hypoplastic anemia	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
kongenit isoleret pure red cell-aplasi	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
kongenit erytrocytær hypoplasi	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Meningocele	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Vitamin D-dependent rickets, type 2	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Vitamin D-dependent rickets, type 1	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital spondylolisthesis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Occipital meningocele (disorder)	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Caudal regression syndrome	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Fallopian tube and broad ligament anomalies (disorder)	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital stromal corneal dystrophy (disorder)	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Congenital abnormal shape of arch of cervical vertebra	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Frontal bossing	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital mandibular hyperplasia	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital thickening of ulna	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital osteodystrophy	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital alveolar hyperplasia of maxilla (disorder)	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital trigger finger and trigger thumb	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Leydig cell agenesis	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Malrotation of intestine with internal herniation (disorder)	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital glenoid dysplasia	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Partial defect of ulna	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Kongenit tommel-springfinger	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital syphilitic periostitis	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital syphilitic osteochondritis	Is a	True	Congenital connective tissue disorder	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
Congenital short quadriceps	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.	Is a	False	Congenital connective tissue disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
482174018	Congenital connective tissue disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754818014	Congenital connective tissue disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2321721000005117	Kongenit bindevævssygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)