720463009: Adducted thumbs and arthrogryposis syndrome Christian type (disorder)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (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\Multiple malformation syndrome with facial-limb defects as major feature\Adducted thumbs and arthrogryposis syndrome Christian type (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\Multiple malformation syndrome with facial-limb defects as major feature\Adducted thumbs and arthrogryposis syndrome Christian type (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\Multiple malformation syndrome with facial-limb defects as major feature\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Adducted thumbs and arthrogryposis syndrome Christian type (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\Adducted thumbs and arthrogryposis syndrome Christian type (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\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (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\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (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\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Adducted thumbs and arthrogryposis syndrome Christian type (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\Adducted thumbs and arthrogryposis syndrome Christian type (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\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (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\Adducted thumbs and arthrogryposis syndrome Christian type (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\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Adducted thumbs and arthrogryposis syndrome Christian type (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\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Adducted thumbs and arthrogryposis syndrome Christian type (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3320919013 Adducted thumbs and arthrogryposis syndrome Christian type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3320920019 Adducted thumbs and arthrogryposis syndrome Christian type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5402343018 A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402344012 A type of arthrogryposis characterised by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. 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
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	Thumb structure	false	Inferred relationship	Some	5
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	Amyoplasia congenita disruptive sequence	false	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	Congenital malformation of thumb (disorder)	true	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	7
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	7
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	Thumb structure	true	Inferred relationship	Some	1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	Arthrogryposis multiplex congenita	true	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	5
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	5

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
3320919013	Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320920019	Adducted thumbs and arthrogryposis syndrome Christian type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5402343018	A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402344012	A type of arthrogryposis characterised by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core