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49755003: Morphologically abnormal structure (morphologic abnormality)

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
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
198205018 Lesion en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5206 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Morphologically altered structure true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Bilateral calcaneal congenital deformity Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of blood vessel of right upper limb Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of blood vessel of left upper limb Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of blood vessel of right lower limb (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of blood vessel of left lower limb (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Diffuse capillary malformation with overgrowth Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital trigger finger of bilateral hands Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital trigger finger of bilateral hands Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital malformation of bone of thorax (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital structural abnormality of bilateral orbits Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of bilateral orbits Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital structural abnormality of left orbit proper (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of right orbit proper (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of ciliary body Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of left cornea Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of right cornea (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of bilateral eyelids (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of bilateral eyelids (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A disorder of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete androgen insensitivity syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Stromal cell hyperplasia in androgen insensitivity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Testicular lesion in androgen insensitivity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
ALDH18A1-related de Barsy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Luscan Lumish syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Clark Baraitser syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL7-related Bohring Opitz-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL7-related Bohring Opitz-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 11 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 12 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated lipoma of filum terminale Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Myelic limited dorsal malformation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Myelic limited dorsal malformation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Acquired prepapillary vascular loop (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Chaotic conus spinal cord lipoma Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chaotic conus spinal cord lipoma Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital retained medullary spinal cord Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital retained medullary spinal cord Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Non-saccular limited dorsal myeloschisis (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-saccular limited dorsal myeloschisis (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Limited dorsal myeloschisis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Limited dorsal myeloschisis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Saccular limited dorsal myeloschisis (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Saccular limited dorsal myeloschisis (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital non-dysraphic lipoma of medulla of spinal cord (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital malformation of helix (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL7-related Crisponi/cold-induced sweating-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
CHD8 overgrowth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation of angle of anterior chamber of right eye Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation of angle of anterior chamber of left eye (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation of angle of anterior chamber of bilateral eyes (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation of angle of anterior chamber of bilateral eyes (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Cardiac urogenital syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Cardiac urogenital syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
CIMDAG syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
CIMDAG syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of radiocarpal joint (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of bilateral radiocarpal joints Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of bilateral radiocarpal joints Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Derangement of bilateral ankle joints Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of bilateral ankle joints Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Derangement of anterior horn of lateral meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of anterior horn of lateral meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Derangement of posterior horn of medial meniscus of bilateral knees (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of posterior horn of medial meniscus of bilateral knees (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Derangement of posterior horn of lateral meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of posterior horn of lateral meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chronic effect of ultraviolet radiation on normal skin (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Derangement of joint of left wrist region (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of left radiocarpal joint (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of right radiocarpal joint (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of joint of right wrist region Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Derangement of joint of wrist region Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-terminal myelocystocele (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Posterior cord syndrome due to vascular malformation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic derangement of anterior horn of lateral meniscus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic derangement of anterior horn of lateral meniscus of left knee Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic derangement of anterior horn of lateral meniscus of right knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier (core metadata concept) 1

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