363045008: Connective tissue hereditary disorder (disorder)

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

\Genetic disease\Hereditary disease\Connective tissue hereditary disorder

\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Connective tissue hereditary disorder	Is a	Hereditary disease	false	Inferred relationship	Some
Connective tissue hereditary disorder	Is a	Disorder of connective tissue (disorder)	true	Inferred relationship	Some
Connective tissue hereditary disorder	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Connective tissue hereditary disorder	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Connective tissue hereditary disorder	Finding site	Body system structure	false	Inferred relationship	Some
Connective tissue hereditary disorder	Is a	Hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant hypophosphatemic rickets	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Glucoaminophosphaturi-syndrom med rakit	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Morquio syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Fanconi syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
kerubisme	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
hereditær nefrogen diabetes insipidus	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Infantile nephropathic cystinosis	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Metabolic disease of collagen	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Hereditary edema of legs	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Hereditary tubulointerstitial disorder	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Farber's lipogranulomatosis	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Neurofibromatosis type 1	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Familial Mediterranean fever	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Gouty tophus of tendon	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Familial interstitial nephritis	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Hypermobility syndrome	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Craniodiaphyseal dysplasia	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Marfan's syndrome affecting skin	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Cutis laxa, autosomal dominant	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Geroderma osteodysplastica	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Dysostosis multiplex group	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Lattice corneal dystrophy (disorder)	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Glucoaminophosphaturi-syndrom med rakit	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Pyle metaphyseal dysplasia	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Morquio syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
kerubisme	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Cutis laxa, autosomal recessive (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Franceschetti-Kleins syndrom	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Acrodysostosis	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Benign autosomal dominant osteopetrose	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Multiple congenital exostosis	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Spondyloenchondromatosis (disorder)	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Kutan asteni hos hunde OG/ELLER katte	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Cleidocranial dysostosis	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Fleck corneal dystrophy (disorder)	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Schnyder crystalline cornea dystrophy (disorder)	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Bovine hereditary syndactyly	Is a	False	Connective tissue hereditary 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	Connective tissue hereditary disorder	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Fanconi's anemia	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Giacci familial neurogenic acroosteolysis (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Klippel-Trénaunay-Webers syndrom	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Duane-radial ray syndrome (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Polyostotic fibrous dysplasia of bone	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Shwachman syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Tarsal-carpal coalition syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
3-M syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Congenital stromal corneal dystrophy (disorder)	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Surfactant dysfunction	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Auriculo-condylar syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Acromicric dysplasia	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Congenital dystrophia brevicollis (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Branchiooculofacial syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Spondyloenchondrodysplasia with immune dysregulation	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait.	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Baller-Gerold syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Pulmonary interstitial glycogenosis	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Antley-Bixler syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
akrocefalopolysyndaktyli	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Marfan's syndrome	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Marden Walker syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
dermatosparaxis hos kvæg OG/ELLER får	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Atelosteogenesis	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Jackson-Weiss syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Macular corneal dystrophy	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Oto-onycho-peroneal syndrome	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.	Is a	True	Connective tissue hereditary disorder	Inferred relationship	Some
Spondyloocular syndrome (disorder)	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.	Is a	False	Connective tissue hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
482180014	Connective tissue hereditary disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754824015	Connective tissue hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3038367019	Inherited disorder of connective tissue	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2321731000005119	hereditær bindevævssygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)