722429003: Distal limb deficiency with micrognathia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of limb\Distal limb deficiency with micrognathia syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of limb\Distal limb deficiency with micrognathia syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of limb\Distal limb deficiency with micrognathia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Distal limb deficiency with micrognathia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Distal limb deficiency with micrognathia syndrome

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

\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome

\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\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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 face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Distal limb deficiency with micrognathia syndrome
\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\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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 face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Distal limb deficiency with micrognathia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Distal limb deficiency with micrognathia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Distal limb deficiency with micrognathia syndrome
\Disease\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal limb deficiency with micrognathia syndrome
\Disease\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal limb deficiency with micrognathia syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal limb deficiency with micrognathia syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Distal limb deficiency with micrognathia syndrome
\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\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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 face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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 face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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 face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal limb deficiency with micrognathia syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Distal limb deficiency with micrognathia syndrome
\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\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\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 face bones\Congenital anomaly of mandible\Congenital micrognathism\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Distal limb deficiency with micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Distal limb deficiency with micrognathia syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3331447019 Distal limb deficiency with micrognathia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3332024011 Distal limb deficiency with micrognathia syndrome en Synonym Active Case insensitive SNOMED CT core

3332025012 10q24 microduplication syndrome en Synonym Active Case insensitive SNOMED CT core

3332026013 Buttiens Fryns syndrome en Synonym Active Case sensitive SNOMED CT core

3332027016 Syndrome with a combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia. A 10q24 duplication or triplication was detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal limb deficiency with micrognathia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Distal limb deficiency with micrognathia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Distal limb deficiency with micrognathia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal limb deficiency with micrognathia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Distal limb deficiency with micrognathia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal limb deficiency with micrognathia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Distal limb deficiency with micrognathia syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	2
Distal limb deficiency with micrognathia syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Distal limb deficiency with micrognathia syndrome	Finding site	Bone structure of mandible	true	Inferred relationship	Some	1
Distal limb deficiency with micrognathia syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	3
Distal limb deficiency with micrognathia syndrome	Finding site	Entire limb	true	Inferred relationship	Some	2
Distal limb deficiency with micrognathia syndrome	Finding site	Chromosome pair 10	true	Inferred relationship	Some	3
Distal limb deficiency with micrognathia syndrome	Is a	Congenital deformity	false	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Distal limb deficiency with micrognathia syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	4
Distal limb deficiency with micrognathia syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Distal limb deficiency with micrognathia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome	Is a	Congenital micrognathism	true	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome	Is a	10q partial trisomy syndrome	true	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Distal limb deficiency with micrognathia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Distal limb deficiency with micrognathia syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Some	6
Distal limb deficiency with micrognathia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Distal limb deficiency with micrognathia syndrome	Finding site	Bone structure of mandible	false	Inferred relationship	Some	6
Distal limb deficiency with micrognathia syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	4
Distal limb deficiency with micrognathia syndrome	Finding site	Entire limb	false	Inferred relationship	Some	4
Distal limb deficiency with micrognathia syndrome	Associated morphology	Partial trisomy	false	Inferred relationship	Some	5
Distal limb deficiency with micrognathia syndrome	Finding site	Chromosome pair 10	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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331447019	Distal limb deficiency with micrognathia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3332024011	Distal limb deficiency with micrognathia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332025012	10q24 microduplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332026013	Buttiens Fryns syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3332027016	Syndrome with a combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia. A 10q24 duplication or triplication was detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation.	en	Definition	Active	Case sensitive	SNOMED CT core