716108004: Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Head finding (finding)\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\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\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\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\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\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\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism 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\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly with spastic paraplegia and dysmorphism 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\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism 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\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly with spastic paraplegia and dysmorphism 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\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly with spastic paraplegia and dysmorphism 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\Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304762018 Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304763011 Macrocephaly with spastic paraplegia and dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304764017 Fryns macrocephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401230019 Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401231015 Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterised by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. 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
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	Macrocephaly	false	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	Hereditary spastic paraplegia	false	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Lower limb structure	false	Inferred relationship	Some	2
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	4
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Entire head	false	Inferred relationship	Some	4
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	5
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Spinal cord structure	false	Inferred relationship	Some	5
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	5
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	2
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Entire head	false	Inferred relationship	Some	2
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	4
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	5
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	5
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	4
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	Autosomal recessive hereditary spastic paraplegia	true	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	6
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	9
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Some	2
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Some	8
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	7
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304762018	Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304763011	Macrocephaly with spastic paraplegia and dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304764017	Fryns macrocephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401230019	Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401231015	Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterised by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core