783789002: Autosomal recessive brachyolmia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal recessive brachyolmia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive brachyolmia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Developmental disorder\Developmental hereditary disorder\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3760380016 Autosomal recessive brachyolmia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3760381017 Autosomal recessive brachyolmia en Synonym Active Case insensitive SNOMED CT core

3760387018 Brachyolmia Hobaek/Toledo type en Synonym Active Initial character case insensitive SNOMED CT core

3760386010 Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive brachyolmia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive brachyolmia	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive brachyolmia	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal recessive brachyolmia	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Autosomal recessive brachyolmia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive brachyolmia	Is a	Brachyolmia	true	Inferred relationship	Some
Autosomal recessive brachyolmia	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Autosomal recessive brachyolmia	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Autosomal recessive brachyolmia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal recessive brachyolmia	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	2
Autosomal recessive brachyolmia	Finding site	Bone structure	true	Inferred relationship	Some	1
Autosomal recessive brachyolmia	Interprets	Height / growth measure	true	Inferred relationship	Some	2

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
3760380016	Autosomal recessive brachyolmia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3760381017	Autosomal recessive brachyolmia	en	Synonym	Active	Case insensitive	SNOMED CT core
3760387018	Brachyolmia Hobaek/Toledo type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3760386010	Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core