723998001: Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

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

\Finding of head region\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498174017 Robin sequence with cleft mandible and limb anomalies syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498175016 Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3498176015 Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3498177012 Richieri Costa Pereira syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499906011 Syndrome with characteristics of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and highly arched palate was also observed. Transmission is autosomal recessive. There is evidence this syndrome is caused by homozygous or compound heterozygous mutation in the EIF4A3 gene on chromosome 17q25. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	Robin sequence	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	Cleft mandible	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Finding site	Bone structure of mandible	false	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Finding site	Limb structure	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Finding site	Bone structure of mandible	true	Inferred relationship	Some	1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3498174017	Robin sequence with cleft mandible and limb anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498175016	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3498176015	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3498177012	Richieri Costa Pereira syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499906011	Syndrome with characteristics of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and highly arched palate was also observed. Transmission is autosomal recessive. There is evidence this syndrome is caused by homozygous or compound heterozygous mutation in the EIF4A3 gene on chromosome 17q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core