720408003: Acrofrontofacionasal dysostosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis

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

\Finding of head region\Finding of face\Disorder of face\...

\Lesion of face\Acrofrontofacionasal dysostosis

\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis

\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disorder of head\Disorder of face\Lesion of face\Acrofrontofacionasal dysostosis
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrofrontofacionasal dysostosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acrofrontofacionasal dysostosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Disorder of head\Disorder of face\Lesion of face\Acrofrontofacionasal dysostosis
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Developmental hereditary disorder\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis

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

Descriptions:

Id Description Lang Type Status Case? Module

3320654015 Acrofrontofacionasal dysostosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3320655019 Acrofrontofacionasal dysostosis en Synonym Active Case insensitive SNOMED CT core

3320656018 Acro-fronto-facio-nasal dysostosis en Synonym Active Case insensitive SNOMED CT core

3320657010 Richieri Costa Colletto syndrome en Synonym Active Case sensitive SNOMED CT core

3320658017 A very rare congenital malformation syndrome with the association of facial and skeletal anomalies, severe intellectual deficit and occasional genitourinary anomalies. The cranio-facial malformations are numerous and variable and include brachycephaly or microbrachycephaly. Other skeletal malformations are also present, with syndactyly of fingers, hypoplastic toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, cataract and congenital glaucoma. In some male patients, hypospadias and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrofrontofacionasal dysostosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrofrontofacionasal dysostosis	Finding site	Face structure	true	Inferred relationship	Some	2
Acrofrontofacionasal dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Acrofrontofacionasal dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Acrofrontofacionasal dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Acrofrontofacionasal dysostosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis	Finding site	Limb structure	true	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Acrofrontofacionasal dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Acrofrontofacionasal dysostosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Acrofrontofacionasal dysostosis	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Acrofrontofacionasal dysostosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Acrofrontofacionasal dysostosis	Is a	Dysostosis of bone of skull	true	Inferred relationship	Some
Acrofrontofacionasal dysostosis	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Acrofrontofacionasal dysostosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acrofrontofacionasal dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Acrofrontofacionasal dysostosis	Occurrence	Congenital	true	Inferred relationship	Some	3
Acrofrontofacionasal dysostosis	Finding site	Bone structure of cranium	true	Inferred relationship	Some	3
Acrofrontofacionasal dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Acrofrontofacionasal dysostosis	Occurrence	Congenital	false	Inferred relationship	Some	4
Acrofrontofacionasal dysostosis	Finding site	Limb structure	false	Inferred relationship	Some	4
Acrofrontofacionasal dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Acrofrontofacionasal dysostosis	Occurrence	Congenital	false	Inferred relationship	Some	5
Acrofrontofacionasal dysostosis	Finding site	Face structure	false	Inferred relationship	Some	5
Acrofrontofacionasal dysostosis	Finding site	Limb structure	false	Inferred relationship	Some	3
Acrofrontofacionasal dysostosis	Is a	Lesion of face	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrofrontofacionasal dysostosis type 2	Is a	False	Acrofrontofacionasal dysostosis	Inferred relationship	Some

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
3320654015	Acrofrontofacionasal dysostosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3320655019	Acrofrontofacionasal dysostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3320656018	Acro-fronto-facio-nasal dysostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3320657010	Richieri Costa Colletto syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3320658017	A very rare congenital malformation syndrome with the association of facial and skeletal anomalies, severe intellectual deficit and occasional genitourinary anomalies. The cranio-facial malformations are numerous and variable and include brachycephaly or microbrachycephaly. Other skeletal malformations are also present, with syndactyly of fingers, hypoplastic toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, cataract and congenital glaucoma. In some male patients, hypospadias and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration.	en	Definition	Active	Case sensitive	SNOMED CT core