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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
482174018 Congenital connective tissue disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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

195 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 true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital connective tissue disorder Finding site Connective tissue structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital connective tissue disorder Finding site Structure of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital connective tissue disorder Finding site Connective tissue false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital connective tissue disorder Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital connective tissue disorder Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital connective tissue disorder Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital connective tissue disorder Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital epicardial cyst Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cyst of canal of Nuck Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of subcutaneous tissue Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of cartilage Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Extrapulmonary subpleural pulmonary sequestration Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital aplasia of round ligament Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
pollice a scatto congenito Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lateral accessory root canals Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Partially impacted tooth in bone Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chylothorax (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital diffuse lipomatosis (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Conjoined twins causing disproportion Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pleuropericardial cyst Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
incurvation posturale congénitale de la colonne vertébrale Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile myofibromatosis Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inherited cutis laxa Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bacterial pneumonia Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gouty tophus of tendon Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital total lipodystrophy (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of peritoneum (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glucoaminophosphaturia syndrome with rickets Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fetal congenital tumor causing disproportion Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital syphilitic periostitis Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mesenteric cyst Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniorachischisis Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coxa valga Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Morquio syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital shortening of tendon Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of pleural folds (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of muscle AND/OR tendon (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Universal mesentery Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Leydig cell agenesis Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital adhesions of omentum Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital syphilitic osteochondritis (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epidermolysis bullosa (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital rectovaginal constriction of Jersey cattle Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile nephropathic cystinosis Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
épiphysite syphilitique congénitale Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cyst of omentum (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracted pelvis Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of broad ligament Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coxa vara Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Farber's lipogranulomatosis Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Radial aplasia-thrombocytopenia syndrome Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bertolotti's syndrome Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital mesocolic hernia (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pachydermoperiostosis syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of tympanic anulus Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bronchomalacia Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital macular corneal dystrophy Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly, pleural folds Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
schistosomus reflexus Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cutaneous asthenia in dogs AND/OR cats Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital/hereditary cutis laxa Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
lipoatrophie congénitale généralisée Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital adhesions of peritoneum Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital vaginal enterocele Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fetal myelomeningocele causing disproportion Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Defect of vertebral segmentation Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital spondylolysis of lumbosacral region Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital meningocele Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of tendon (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa secondary to inherited disorder of connective tissue (disorder) Associated with False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Jackson's membrane Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
angiodysplasie ostéodystrophique Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi's anemia Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplastic anaemia Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pure red cell aplasia Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital red cell hypoplasia Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Meningocele Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 2 (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 1 Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital spondylolisthesis Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Occipital meningocele (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Caudal regression syndrome Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fallopian tube and broad ligament anomalies Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stromal corneal dystrophy (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of arch of cervical vertebra Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frontal bossing Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital mandibular hyperplasia (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital thickening of ulna Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital osteodystrophy Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital alveolar hyperplasia of maxilla Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital trigger finger and trigger thumb Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Leydig cell agenesis Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital kyphoscoliosis (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Malrotation of intestine with internal herniation (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital glenoid dysplasia Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Partial defect of ulna Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
pollice a scatto congenito Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital syphilitic periostitis Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital syphilitic osteochondritis (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bowing of long bone (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multicentric osteolysis nodulosis arthropathy spectrum Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short quadriceps (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)

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