720418008: Acrocraniofacial 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\Acrocraniofacial dysostosis

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

\Finding of head region\Finding of face\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\Acrocraniofacial dysostosis

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

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial 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\Acrocraniofacial 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\Acrocraniofacial dysostosis
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial 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\Acrocraniofacial dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrocraniofacial dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial 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\Acrocraniofacial 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\Acrocraniofacial dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial 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\Acrocraniofacial dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3320697013 Acrocraniofacial dysostosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3320698015 Acrocraniofacial dysostosis en Synonym Active Case insensitive SNOMED CT core

3320699011 Kaplan Plauchu Fitch syndrome en Synonym Active Case sensitive SNOMED CT core

3320700012 A very rare form of acrofacial dysostosis, reported in two sisters to date, with characteristics of short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocraniofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocraniofacial dysostosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Acrocraniofacial dysostosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Acrocraniofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Acrocraniofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocraniofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Acrocraniofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Acrocraniofacial dysostosis	Finding site	Face structure	true	Inferred relationship	Some	2
Acrocraniofacial dysostosis	Finding site	Limb structure	true	Inferred relationship	Some	1
Acrocraniofacial dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Acrocraniofacial dysostosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Acrocraniofacial dysostosis	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Acrocraniofacial dysostosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Acrocraniofacial dysostosis	Is a	Dysostosis of bone of skull	true	Inferred relationship	Some
Acrocraniofacial dysostosis	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Acrocraniofacial dysostosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acrocraniofacial dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Acrocraniofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Some	3
Acrocraniofacial dysostosis	Finding site	Bone structure of cranium	true	Inferred relationship	Some	3
Acrocraniofacial dysostosis	Occurrence	Congenital	false	Inferred relationship	Some	4
Acrocraniofacial dysostosis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Acrocraniofacial dysostosis	Occurrence	Congenital	false	Inferred relationship	Some	5
Acrocraniofacial dysostosis	Finding site	Face structure	false	Inferred relationship	Some	5
Acrocraniofacial dysostosis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Acrocraniofacial dysostosis	Finding site	Limb structure	false	Inferred relationship	Some	3
Acrocraniofacial dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Acrocraniofacial dysostosis	Finding site	Bone structure of cranium	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
3320697013	Acrocraniofacial dysostosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3320698015	Acrocraniofacial dysostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3320699011	Kaplan Plauchu Fitch syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3320700012	A very rare form of acrofacial dysostosis, reported in two sisters to date, with characteristics of short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Case sensitive	SNOMED CT core