716195006: Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Verloes Bourguignon syndrome

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

\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome

\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome

\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\Verloes Bourguignon syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachyolmia\Verloes Bourguignon syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\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\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Verloes Bourguignon syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Verloes Bourguignon syndrome

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305046014 Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3305047017 Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome en Synonym Active Case insensitive SNOMED CT core

3305048010 Platyspondyly amelogenesis imperfecta en Synonym Active Case insensitive SNOMED CT core

3305049019 Verloes Bourguignon syndrome en Synonym Active Case sensitive SNOMED CT core

3305050019 Brachyolmia and amelogenesis imperfecta syndrome en Synonym Active Case insensitive SNOMED CT core

3305051015 An exceedingly rare form of brachyolmia with characteristics of mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Verloes Bourguignon syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Verloes Bourguignon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Verloes Bourguignon syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Verloes Bourguignon syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Verloes Bourguignon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Verloes Bourguignon syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Verloes Bourguignon syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	3
Verloes Bourguignon syndrome	Finding site	Structure of hard tissue of tooth	false	Inferred relationship	Some	3
Verloes Bourguignon syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Verloes Bourguignon syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Verloes Bourguignon syndrome	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	2
Verloes Bourguignon syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Verloes Bourguignon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Verloes Bourguignon syndrome	Finding site	Enamel structure	true	Inferred relationship	Some	4
Verloes Bourguignon syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	3
Verloes Bourguignon syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Verloes Bourguignon syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	3
Verloes Bourguignon syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Verloes Bourguignon syndrome	Is a	Amelogenesis imperfecta	true	Inferred relationship	Some
Verloes Bourguignon syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Verloes Bourguignon syndrome	Is a	Brachyolmia	true	Inferred relationship	Some
Verloes Bourguignon syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Verloes Bourguignon syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Verloes Bourguignon syndrome	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some
Verloes Bourguignon syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Verloes Bourguignon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Verloes Bourguignon syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
Verloes Bourguignon syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Verloes Bourguignon syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Verloes Bourguignon syndrome	Finding site	Structure of hard tissue of tooth	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
3305046014	Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305047017	Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305048010	Platyspondyly amelogenesis imperfecta	en	Synonym	Active	Case insensitive	SNOMED CT core
3305049019	Verloes Bourguignon syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3305050019	Brachyolmia and amelogenesis imperfecta syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305051015	An exceedingly rare form of brachyolmia with characteristics of mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	en	Definition	Active	Case sensitive	SNOMED CT core