724140002: Microspherophakia with metaphyseal dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Microspherophakia with metaphyseal dysplasia syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Microspherophakia with metaphyseal dysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Microspherophakia with metaphyseal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Microspherophakia with metaphyseal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Microspherophakia with metaphyseal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Microspherophakia with metaphyseal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Microspherophakia with metaphyseal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Microspherophakia with metaphyseal dysplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Microspherophakia with metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Microspherophakia with metaphyseal dysplasia syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3431017014 Microspherophakia with metaphyseal dysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3431018016 Microspherophakia with metaphyseal dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3431019012 Verloes Van Maldergem de Marneffe syndrome en Synonym Active Case sensitive SNOMED CT core

3431020018 A very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. It has been reported in a father and his son. Bone dysplasia has characteristics of diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. Eye defects consisted of myopia, microspherophakia, lens coloboma and luxation and retinal detachment. The affected patients have normal mental development. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microspherophakia with metaphyseal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Microspherophakia with metaphyseal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Microspherophakia with metaphyseal dysplasia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microspherophakia with metaphyseal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microspherophakia with metaphyseal dysplasia syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Microspherophakia with metaphyseal dysplasia syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	2
Microspherophakia with metaphyseal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Microspherophakia with metaphyseal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Microspherophakia with metaphyseal dysplasia syndrome	Associated morphology	Congenital abnormal roundness	true	Inferred relationship	Some	2
Microspherophakia with metaphyseal dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Microspherophakia with metaphyseal dysplasia syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Microspherophakia with metaphyseal dysplasia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome	Is a	Microspherophakia	true	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Microspherophakia with metaphyseal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Microspherophakia with metaphyseal dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Microspherophakia with metaphyseal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Microspherophakia with metaphyseal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Microspherophakia with metaphyseal dysplasia syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	5
Microspherophakia with metaphyseal dysplasia syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	3
Microspherophakia with metaphyseal dysplasia syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Microspherophakia with metaphyseal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Microspherophakia with metaphyseal dysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
Microspherophakia with metaphyseal dysplasia syndrome	Associated morphology	Congenital abnormal roundness	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3431017014	Microspherophakia with metaphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3431018016	Microspherophakia with metaphyseal dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3431019012	Verloes Van Maldergem de Marneffe syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3431020018	A very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. It has been reported in a father and his son. Bone dysplasia has characteristics of diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. Eye defects consisted of myopia, microspherophakia, lens coloboma and luxation and retinal detachment. The affected patients have normal mental development.	en	Definition	Active	Case sensitive	SNOMED CT core