Congenital anomaly of skeletal bone
Congenital hypergonadotropic hypogonadism
Congenital ichthyosis of skin
Congenital ichthyosis of skin
Dysplasia with increased bone density
Dysplasia with increased bone density
Hereditary disorder of endocrine system
Hereditary disorder of endocrine system
Hereditary disorder of musculoskeletal system
Hereditary disorder of musculoskeletal system
Multiple system malformation syndrome
Multiple system malformation syndrome
Premature ovarian failure
Premature ovarian failure
Reproductive system hereditary disorder
Reproductive system hereditary disorder
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Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder)
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome
Osteosclerosis, ichthyosis, premature ovarian failure syndrome
This syndrome has characteristics of sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. It has been described in three adult sisters presenting with swelling of the limbs and occasional mild pain in the legs.
syndroom van scleroserende botdysplasie, ichtyose en prematuur ovariumfalen
Id722114007
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteOvarian endocrine structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsHormone secretion
Associated morphologyHyperkeratosis
Finding siteEntire skin
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsKeratinization
Has interpretationAbove reference range
InterpretsBone density scan
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ77.4
RuleTRUE
AdviceALWAYS Q77.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ80.0
RuleTRUE
AdviceALWAYS Q80.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE28.3
RuleTRUE
AdviceALWAYS E28.3
CorrelationSNOMED CT source code to target map code correlation not specified