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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
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described. Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyose-Hypotrichose-Syndrom Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period. Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short costocoracoid ligament (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Banki syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital trigger finger of right hand Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital trigger finger of left hand Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal Marfan syndrome Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
16q24.1 microdeletion syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, type 3 Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Extensor tendons of finger anomalies (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hiatus hernia Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aneurysm osteoarthritis syndrome Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mandibuloacral dysostosis Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of mitral valve annulus Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aortic valve ring hypoplasia Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Tricuspid annulus hypoplasia Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary valve ring hypoplasia Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of mitral valve annulus (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Allantoic cyst Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Radicular cyst Is a False Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dilatation of tricuspid annulus Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of vitreous humour Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Williams syndrome Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital Fanconi syndrome Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Developmental anomaly of bilateral pleurae (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of anulus fibrosus of aorta Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Late congenital syphilitic osteochondropathy Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital trigger finger Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial articular hypermobility syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Existential restriction modifier (core metadata concept)

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