89444000: Oromandibular-limb hypogenesis spectrum (disorder)

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

\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\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\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\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\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\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\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\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\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum

\Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum

\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum
\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\Oromandibular-limb hypogenesis spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

148293017 Oromandibular-limb hypogenesis spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

148294011 Hypoglossia-hypodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

148299018 Facial-limb disruptive spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

832339019 Oromandibular-limb hypogenesis spectrum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323616016 A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). 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
Oromandibular-limb hypogenesis spectrum	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Malformation defect spectrum	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of digestive organ (disorder)	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of soft tissue	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of upper digestive tract (disorder)	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of brain stem (disorder)	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Congenital disorder of facial nerve	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Occurrence	Congenital	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Finding site	Brainstem structure	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Finding site	Facial nerve structure	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	Developmental anomaly	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Finding site	Bone structure of mandible	true	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Finding site	Tongue structure	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Finding site	Finger structure	false	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of tongue (disorder)	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of hand (disorder)	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of digit	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Finding site	Limb structure	false	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of mandible	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Congenital anomaly of finger	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Congenital anomaly of jaw	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital malformation	false	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Finding site	Bone structure of cranium	false	Inferred relationship	Some	4
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	5
Oromandibular-limb hypogenesis spectrum	Is a	Congenital anomaly of mandible	true	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	4
Oromandibular-limb hypogenesis spectrum	Is a	Perodactylia	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Multiple congenital malformations	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Finding site	Finger structure	false	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Finding site	Limb structure	true	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of mandible	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of limb (disorder)	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Disorder of bone development (disorder)	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Occurrence	Congenital	true	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Is a	Congenital malformation syndrome (disorder)	false	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Oromandibular-limb hypogenesis spectrum	Occurrence	Congenital	false	Inferred relationship	Some	5
Oromandibular-limb hypogenesis spectrum	Finding site	Bone structure of mandible	false	Inferred relationship	Some	5
Oromandibular-limb hypogenesis spectrum	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Oromandibular-limb hypogenesis spectrum	Occurrence	Congenital	false	Inferred relationship	Some	4
Oromandibular-limb hypogenesis spectrum	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	Congenital abnormality of oral cavity	true	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	4
Oromandibular-limb hypogenesis spectrum	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Oromandibular-limb hypogenesis spectrum	Occurrence	Congenital	false	Inferred relationship	Some	6
Oromandibular-limb hypogenesis spectrum	Finding site	Limb structure	false	Inferred relationship	Some	6
Oromandibular-limb hypogenesis spectrum	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Occurrence	Congenital	true	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Occurrence	Congenital	true	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Finding site	Structure of internal part of mouth	true	Inferred relationship	Some	3
Oromandibular-limb hypogenesis spectrum	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Oromandibular-limb hypogenesis spectrum	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	4
Oromandibular-limb hypogenesis spectrum	Finding site	Face structure	false	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glossopalatine ankylosis (disorder)	Is a	True	Oromandibular-limb hypogenesis spectrum	Inferred relationship	Some
Charlie M syndrome (disorder)	Is a	True	Oromandibular-limb hypogenesis spectrum	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
148293017	Oromandibular-limb hypogenesis spectrum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
148294011	Hypoglossia-hypodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
148299018	Facial-limb disruptive spectrum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
832339019	Oromandibular-limb hypogenesis spectrum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323616016	A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core