254062008: Spondyloepimetaphyseal disorder (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

\Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal disorder	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal disorder	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal disorder	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal disorder	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal disorder	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal disorder	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal disorder	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal disorder	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal disorder	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepimetaphyseal disorder	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepimetaphyseal disorder	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepimetaphyseal disorder	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal disorder	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal disorder	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive spondyloepimetaphyseal dysplasia	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Namaqualand hip dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive pseudorheumatoid dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Immuno-osseous dysplasia (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Opsismodysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia tarda	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyggve-Melchior-Clausen syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Sponastrime dysplasia (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Micromelic spondyloepimetaphyseal dysplasia	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Smith McCort dysplasia (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Missouri type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia due to matrilin-3 variants and characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Czech dysplasia metatarsal type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, the first phenotype; patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities. The second phenotype; short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly. The third phenotype; patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia anauxetic type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyssegmental dysplasia Silverman Handmaker type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterised by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with multiple dislocations	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked spondyloepimetaphyseal dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
dysplasie spondylo-épimétaphysaire type Bieganski	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Isidor type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Rolland-Debuqois syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378211012	Spondyloepimetaphyseal disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644902011	Spondyloepimetaphyseal disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3035816013	Spondyloepimetaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378211012	Spondyloepimetaphyseal disorder	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378211012	Spondyloepimetaphyseal disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644902011	Spondyloepimetaphyseal disorder (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644902011	Spondyloepimetaphyseal disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3035816013	Spondyloepimetaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3035816013	Spondyloepimetaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5081561000241116	trouble spondylo epimetaphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5081561000241116	trouble spondylo epimetaphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module