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363039000: Congenital connective tissue disorder (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
146991000077112 affection congénitale du tissu conjonctif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

198 descendants. Search Descendants:

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 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 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 (disorder) 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
pollice a scatto congenito 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
Conjoined twins causing disproportion Is a False Congenital connective tissue disorder Inferred relationship Some
Pleuropericardial cyst Is a False Congenital connective tissue disorder Inferred relationship Some
incurvation posturale congénitale de la colonne vertébrale 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
Glucoaminophosphaturia syndrome with rickets Is a False Congenital connective tissue disorder Inferred relationship Some
Fetal congenital tumor causing disproportion 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 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
épiphysite syphilitique congénitale 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 rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. 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
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by 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 fruste with prominent pachydermia and minimal-to-absent skeletal changes. 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
Anomaly, pleural folds Is a False Congenital connective tissue disorder Inferred relationship Some
schistosomus reflexus Is a False Congenital connective tissue disorder Inferred relationship Some
Cutaneous asthenia in dogs AND/OR cats Is a False Congenital connective tissue disorder Inferred relationship Some
Congenital/hereditary cutis laxa Is a False Congenital connective tissue disorder Inferred relationship Some
lipoatrophie congénitale généralisée 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 True 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
angiodysplasie ostéodystrophique Is a False Congenital connective tissue disorder Inferred relationship Some
Fanconi's anemia Is a False Congenital connective tissue disorder Inferred relationship Some
Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by 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. Is a False Congenital connective tissue disorder Inferred relationship Some
Congenital hypoplastic anemia Is a False Congenital connective tissue disorder Inferred relationship Some
Congenital pure red cell aplasia Is a False Congenital connective tissue disorder Inferred relationship Some
Congenital red cell hypoplasia 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 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 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
pollice a scatto congenito 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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