717823001: Chondrodysplasia, dentinogenesis imperfecta, joint laxity 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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia

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

\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia

\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia

\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\Metaphyseal chondrodysplasia\Odontochondrodysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Odontochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Odontochondrodysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Odontochondrodysplasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Odontochondrodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Odontochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Odontochondrodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Dentinogenesis imperfecta\Odontochondrodysplasia
\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\Dentinogenesis imperfecta\Odontochondrodysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Odontochondrodysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

3323629016 Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3323630014 Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome en Synonym Active Case insensitive SNOMED CT core

3323631013 Goldblatt chondrodysplasia en Synonym Active Case sensitive SNOMED CT core

3323632018 Goldblatt syndrome en Synonym Active Case sensitive SNOMED CT core

3323633011 Odontochondrodysplasia en Synonym Active Case insensitive SNOMED CT core

3323634017 Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. To date, 11 patients have been reported. Chondrodysplasia has characteristics of mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. The condition is most probably hereditary, transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Odontochondrodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Odontochondrodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Odontochondrodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Odontochondrodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Odontochondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Odontochondrodysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Odontochondrodysplasia	Finding site	Tooth structure	false	Inferred relationship	Some	1
Odontochondrodysplasia	Finding site	Bone structure	true	Inferred relationship	Some	2
Odontochondrodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Odontochondrodysplasia	Is a	Congenital anomaly of tooth	false	Inferred relationship	Some
Odontochondrodysplasia	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Odontochondrodysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Odontochondrodysplasia	Finding site	Dentin structure	true	Inferred relationship	Some	1
Odontochondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Odontochondrodysplasia	Finding site	Bone structure	false	Inferred relationship	Some	3
Odontochondrodysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Odontochondrodysplasia	Finding site	Tooth structure	false	Inferred relationship	Some	4
Odontochondrodysplasia	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
Odontochondrodysplasia	Is a	Dentinogenesis imperfecta	true	Inferred relationship	Some
Odontochondrodysplasia	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Odontochondrodysplasia	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Odontochondrodysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Odontochondrodysplasia	Occurrence	Congenital	false	Inferred relationship	Some	3
Odontochondrodysplasia	Occurrence	Congenital	false	Inferred relationship	Some	4

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
3323629016	Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323630014	Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323631013	Goldblatt chondrodysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3323632018	Goldblatt syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323633011	Odontochondrodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3323634017	Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. To date, 11 patients have been reported. Chondrodysplasia has characteristics of mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. The condition is most probably hereditary, transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core